CPT2 carnitine palmitoyltransferase 2
Gene ID: 1376, updated on 27-Nov-2024Gene type: protein coding
Also known as: CPT1; IIAE4; CPTASE
- See all available tests in GTR for this gene
- Go to complete Gene record for CPT2
- Go to Variation Viewer for CPT2 variants
Summary
The protein encoded by this gene is a nuclear protein which is transported to the mitochondrial inner membrane. Together with carnitine palmitoyltransferase I, the encoded protein oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| An atlas of genetic influences on human blood metabolites. GeneReviews: Not available | |
| Carnitine palmitoyl transferase II deficiency, myopathic form | See labs |
| Carnitine palmitoyl transferase II deficiency, neonatal form | See labs |
| Carnitine palmitoyl transferase II deficiency, severe infantile form | See labs |
| Carnitine palmitoyltransferase II deficiency MedGen: C0342790GeneReviews: Carnitine Palmitoyltransferase II Deficiency | See labs |
| Encephalopathy, acute, infection-induced, susceptibility to, 4 | See labs |
Genomic context
- Location:
- 1p32.3
- Sequence:
- Chromosome: 1; NC_000001.11 (53196824..53214197)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CPT2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- CPT2 database
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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