NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial
Gene ID: 80224, updated on 4-Jan-2025Gene type: protein coding
Also known as: IND1; huInd1; MC1DN21; C14orf127
- See all available tests in GTR for this gene
- Go to complete Gene record for NUBPL
- Go to Variation Viewer for NUBPL variants
Summary
This gene encodes a member of the Mrp/NBP35 ATP-binding proteins family. The encoded protein is required for the assembly of the respiratory chain NADH dehydrogenase (complex I), an oligomeric enzymatic complex located in the inner mitochondrial membrane. Mutations in this gene cause mitochondrial complex I deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. GeneReviews: Not available | |
| Mitochondrial complex 1 deficiency, nuclear type 21 | See labs |
| Whole genome association study identifies polymorphisms associated with QT prolongation during iloperidone treatment of schizophrenia. GeneReviews: Not available |
Genomic context
- Location:
- 14q12
- Sequence:
- Chromosome: 14; NC_000014.9 (31561404..31861224)
- Total number of exons:
- 20
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NUBPL variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- 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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