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    IVD isovaleryl-CoA dehydrogenase [ Homo sapiens (human) ]

    Gene ID: 3712, updated on 10-Dec-2024

    Summary

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    Official Symbol
    IVDprovided by HGNC
    Official Full Name
    isovaleryl-CoA dehydrogenaseprovided by HGNC
    Primary source
    HGNC:HGNC:6186
    See related
    Ensembl:ENSG00000128928 MIM:607036; AllianceGenome:HGNC:6186
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IVDH; ACAD2
    Summary
    Isovaleryl-CoA dehydrogenase (IVD) is a mitochondrial matrix enzyme that catalyzes the third step in leucine catabolism. The genetic deficiency of IVD results in an accumulation of isovaleric acid, which is toxic to the central nervous system and leads to isovaleric acidemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2017]
    Expression
    Ubiquitous expression in thyroid (RPKM 25.0), liver (RPKM 18.5) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See IVD in Genome Data Viewer
    Location:
    15q15.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (40405795..40435947)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (38212996..38243333)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (40697996..40728146)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903472 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40655530-40656030 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40656031-40656531 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:40659527-40660418 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6330 Neighboring gene dispatched RND transporter family member 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:40673800-40674300 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:40674955-40675478 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:40675479-40676000 Neighboring gene kinetochore localized astrin (SPAG5) binding protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9241 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9242 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40699201-40699700 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40728630-40729168 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:40729169-40729706 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:40731858-40732395 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:40733201-40733702 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:40733703-40734202 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6333 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6334 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40737995-40738496 Neighboring gene bromo adjacent homology domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9243 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9244 Neighboring gene uncharacterized LOC124903473 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40755909-40756410 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40756411-40756910 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9245 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6335 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6336 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:40764047-40764950 Neighboring gene carbohydrate sulfotransferase 14

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene. Hertecant JL, et al. Eur J Med Genet, 2012 Dec. PMID 22960500
    2. The variant human isovaleryl-CoA dehydrogenase gene responsible for type II isovaleric acidemia determines an RNA splicing error, leading to the deletion of the entire second coding exon and the production of a truncated precursor protein that interacts poorly with mitochondrial import receptors. Vockley J, et al. J Biol Chem, 1992 Feb 5. PMID 1310317
    3. Nucleotide sequence of messenger RNA encoding human isovaleryl-coenzyme A dehydrogenase and its expression in isovaleric acidemia fibroblasts. Matsubara Y, et al. J Clin Invest, 1990 Apr. PMID 2318964, Free PMC Article
    4. A second Ewing's sarcoma translocation, t(21;22), fuses the EWS gene to another ETS-family transcription factor, ERG. Sorensen PH, et al. Nat Genet, 1994 Feb. PMID 8162068
    5. Structural organization of the human isovaleryl-CoA dehydrogenase gene. Parimoo B, et al. Genomics, 1993 Mar. PMID 8468053

    See all (64) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A Case Report of a Novel Isovaleryl-CoA Dehydrogenase Gene Mutation in a Chinese Family with Isovaleric Acidemia.
      Title: A Case Report of a Novel Isovaleryl-CoA Dehydrogenase Gene Mutation in a Chinese Family with Isovaleric Acidemia.
    2. Nine novel isovaleryl-CoA dehydrogenase mutations have been found in a Spanish cohort with isovaleric acidemia.
      Title: Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.
    3. Our results have illustrated the heterogeneous mutation spectrum and clinical presentation of IVA in the Japanese patients
      Title: Phenotypic Variability and Newly Identified Mutations of the IVD Gene in Japanese Patients with Isovaleric Acidemia.
    4. kinetics and ligand binding of isovaleryl-CoA dehydrogenase
      Title: Kinetic and spectral properties of isovaleryl-CoA dehydrogenase and interaction with ligands.
    5. study reports the first Saudi isovaleric acidemia patients from a consanguineous family with a novel transversion (p.G362V) and briefly discuss likely phenotype-genotype correlation of the disease in the Saudi population
      Title: Identification of a novel IVD mutation in a consanguineous family with isovaleric acidemia.
    6. A heterogeneous mutation spectrum in the IVD gene was identified in isovaleric acidemia patients in the United Arab Emirates.
      Title: Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene.
    7. All were homozygous for a single c.367 G > A (p.G123R) mutation. Despite the genetic homogeneity of this South African group, the clinical presentation varied, ranging from mental handicap and episodes of metabolic derangement to an asymptomatic state
      Title: Clinical variability of isovaleric acidemia in a genetically homogeneous population.
    8. A child with isovaleric acidemia was subsequently found to harbour a known missense mutation (c.A1199G [p.Y371C]) and a novel 4-bp duplication (c.1148_1151dupGCTA [p.Y355X]) in the IVD gene. The former may be a founder mutation in the Chinese population.
      Title: A novel duplication at the putative DNA polymerase alpha arrest site and a founder mutation in Chinese in the IVD gene underlie isovaleric acidaemia.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    10. Mutations of isovaleryl-CoA dehydrogenase gene is associated with isovaleric acidemia
      Title: Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Isovaleryl-CoA dehydrogenase deficiency
    MedGen: C0268575 OMIM: 243500 GeneReviews: Classic Isovaleric Acidemia
    		Compare labs

    EBI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog
    Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.
    EBI GWAS Catalog
    Human metabolic individuality in biomedical and pharmaceutical research.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ12715, FLJ34849

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3-methylbutanoyl-CoA dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 3-methylbutanoyl-CoA dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables 3-methylbutanoyl-CoA dehydrogenase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables flavin adenine dinucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in L-leucine catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in L-leucine catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in L-leucine catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in L-leucine catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in branched-chain amino acid catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in fatty acid beta-oxidation using acyl-CoA dehydrogenase IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    isovaleryl-CoA dehydrogenase, mitochondrial
    Names
    butyryl-CoA dehydrogenase
    epididymis secretory sperm binding protein
    isovaleryl Coenzyme A dehydrogenase
    NP_001152980.2
    NP_001341526.1
    NP_001341527.2
    NP_001341528.2
    NP_001341529.2
    NP_001341530.2
    NP_002216.3
    XP_006720558.1
    XP_016877638.1
    XP_016877642.1
    XP_016877643.1
    XP_016877644.1
    XP_016877646.1
    XP_016877647.1
    XP_047288416.1
    XP_047288417.1
    XP_047288418.1
    XP_047288419.1
    XP_047288420.1
    XP_054233827.1
    XP_054233828.1
    XP_054233829.1
    XP_054233830.1
    XP_054233831.1
    XP_054233832.1
    XP_054233833.1
    XP_054233834.1
    XP_054233835.1
    XP_054233836.1
    XP_054233837.1
    XP_054233838.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011986.2 RefSeqGene

      Range
      5311..20824
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001159508.3 → NP_001152980.2  isovaleryl-CoA dehydrogenase, mitochondrial isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame coding exon in the 5' coding region compared to variant 1. The resulting shorter isoform (2) lacks an internal protein segment compared to isoform 1.
      Source sequence(s)
      AC013356, AK122922
      Consensus CDS
      CCDS53930.2
      UniProtKB/TrEMBL
      A0A0S2Z4K7, A0A384MR53
      Related
      ENSP00000417990.3, ENST00000479013.7
      Conserved Domains (1) summary
      cd01156
      Location:17 → 390
      IVD; Isovaleryl-CoA dehydrogenase

    2. NM_001354597.3 → NP_001341526.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' terminal exon and uses an alternate, in-frame translation start codon compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC013356, AI086669, AK122922, AK315296
      UniProtKB/TrEMBL
      A0A384MR53
      Conserved Domains (1) summary
      cd01156
      Location:26 → 404
      IVD; Isovaleryl-CoA dehydrogenase

    3. NM_001354598.3 → NP_001341527.2  isovaleryl-CoA dehydrogenase, mitochondrial isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains two alternate exons in the 3' region compared to variant 1. The resulting isoform (4) has a longer and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC013356, AK315296
      UniProtKB/TrEMBL
      A0A384MR53
      Conserved Domains (1) summary
      cd01156
      Location:41 → 380
      IVD; Isovaleryl-CoA dehydrogenase

    4. NM_001354599.3 → NP_001341528.2  isovaleryl-CoA dehydrogenase, mitochondrial isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate, in-frame donor splice site in the 5' coding region compared to variant 1. The resulting longer isoform (5) contains an internal protein segment not found in isoform 1.
      Source sequence(s)
      AC013356, AI086669, AK122922, AK315296, BG714533
      UniProtKB/TrEMBL
      A0A384MR53
      Conserved Domains (1) summary
      cd01156
      Location:41 → 449
      IVD; Isovaleryl-CoA dehydrogenase

    5. NM_001354600.3 → NP_001341529.2  isovaleryl-CoA dehydrogenase, mitochondrial isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses an alternate, in-frame donor splice site in the 5' coding region and contains two alternate exons in the 3' region compared to variant 1. The resulting longer isoform (6) contains an internal protein segment in the 5' coding region, and has a longer and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC013356, AK315296, BG714533
      UniProtKB/TrEMBL
      A0A384MR53
      Conserved Domains (1) summary
      cd01156
      Location:41 → 409
      IVD; Isovaleryl-CoA dehydrogenase

    6. NM_001354601.3 → NP_001341530.2  isovaleryl-CoA dehydrogenase, mitochondrial isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) contains an alternate 3' terminal exon compared to variant 1. The resulting isoform (7) has a longer and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC013356, AK315296
      Conserved Domains (1) summary
      cd01156
      Location:41 → 380
      IVD; Isovaleryl-CoA dehydrogenase

    7. NM_002225.5 → NP_002216.3  isovaleryl-CoA dehydrogenase, mitochondrial isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript, and encodes isoform 1.
      Source sequence(s)
      AC013356, AI086669, AK315296
      Consensus CDS
      CCDS10057.3
      UniProtKB/TrEMBL
      A0A0A0MT83, A0A0S2Z422, A0A384MR53
      Related
      ENSP00000418397.3, ENST00000487418.8
      Conserved Domains (1) summary
      cd01156
      Location:41 → 420
      IVD; Isovaleryl-CoA dehydrogenase

    RNA

    1. NR_148925.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) contains an alternate 5' terminal exon, and several alternate exons in the 3' region compared to variant 1. It is represented as non-coding because the use of an alternate, in-frame 5'-most translation start codon as used in variant 3, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC013356, KF459687

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      40405795..40435947
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047432460.1 → XP_047288416.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X2

    2. XM_047432461.1 → XP_047288417.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X3

    3. XM_017022149.2 → XP_016877638.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X1

    4. XM_017022153.2 → XP_016877642.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X4

      UniProtKB/Swiss-Prot
      B2RCV5, B3KVI7, J3KR54, P26440, Q53XZ9, Q96AF6
      UniProtKB/TrEMBL
      A0A2L0RIE3

    5. XM_017022157.2 → XP_016877646.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X9

    6. XM_047432462.1 → XP_047288418.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X7

      UniProtKB/Swiss-Prot
      B2RCV5, B3KVI7, J3KR54, P26440, Q53XZ9, Q96AF6
      UniProtKB/TrEMBL
      A0A2L0RIE3

    7. XM_006720495.4 → XP_006720558.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X11

      Conserved Domains (1) summary
      cl09933
      Location:44 → 323
      ACAD; Acyl-CoA dehydrogenase

    8. XM_017022154.3 → XP_016877643.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X5

      UniProtKB/TrEMBL
      A0A384MR53

    9. XM_047432464.1 → XP_047288420.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X10

      UniProtKB/TrEMBL
      A0A384MR53

    10. XM_017022155.3 → XP_016877644.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X6

      UniProtKB/Swiss-Prot
      B2RCV5, B3KVI7, J3KR54, P26440, Q53XZ9, Q96AF6
      UniProtKB/TrEMBL
      A0A2L0RIE3
      Conserved Domains (1) summary
      cd01156
      Location:44 → 411
      IVD; Isovaleryl-CoA dehydrogenase

    11. XM_047432463.1 → XP_047288419.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X8

      UniProtKB/Swiss-Prot
      B2RCV5, B3KVI7, J3KR54, P26440, Q53XZ9, Q96AF6
      UniProtKB/TrEMBL
      A0A2L0RIE3

    12. XM_017022158.3 → XP_016877647.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X12

    RNA

    1. XR_007064441.1 RNA Sequence

    2. XR_007064442.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      38212996..38243333
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377852.1 → XP_054233827.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X1

    2. XM_054377855.1 → XP_054233830.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X4

      UniProtKB/Swiss-Prot
      B2RCV5, B3KVI7, J3KR54, P26440, Q53XZ9, Q96AF6
      UniProtKB/TrEMBL
      A0A2L0RIE3

    3. XM_054377860.1 → XP_054233835.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X9

    4. XM_054377858.1 → XP_054233833.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X7

      UniProtKB/Swiss-Prot
      B2RCV5, B3KVI7, J3KR54, P26440, Q53XZ9, Q96AF6
      UniProtKB/TrEMBL
      A0A2L0RIE3

    5. XM_054377862.1 → XP_054233837.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X11

    6. XM_054377857.1 → XP_054233832.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X6

      UniProtKB/Swiss-Prot
      B2RCV5, B3KVI7, J3KR54, P26440, Q53XZ9, Q96AF6
      UniProtKB/TrEMBL
      A0A2L0RIE3

    7. XM_054377859.1 → XP_054233834.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X8

      UniProtKB/Swiss-Prot
      B2RCV5, B3KVI7, J3KR54, P26440, Q53XZ9, Q96AF6
      UniProtKB/TrEMBL
      A0A2L0RIE3

    8. XM_054377863.1 → XP_054233838.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X12

    9. XM_054377853.1 → XP_054233828.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X2

    10. XM_054377854.1 → XP_054233829.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X3

    11. XM_054377856.1 → XP_054233831.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X5

      UniProtKB/TrEMBL
      A0A384MR53

    12. XM_054377861.1 → XP_054233836.1  isovaleryl-CoA dehydrogenase, mitochondrial isoform X10

      UniProtKB/TrEMBL
      A0A384MR53

    RNA

    1. XR_008488942.1 RNA Sequence

    2. XR_008488943.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_148923.1: Suppressed sequence

      Description
      NR_148923.1: This RefSeq was removed because it represents an allelic variant that lacks a short repeat (rs368025013), rather than a splice variant.

    2. NR_148924.1: Suppressed sequence

      Description
      NR_148924.1: This RefSeq was removed because it represents an allelic variant that lacks a short repeat (rs368025013), rather than a splice variant.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P26440.2 GenPept UniProtKB/Swiss-Prot:P26440

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