NDUFAF4 NADH:ubiquinone oxidoreductase complex assembly factor 4
Gene ID: 29078, updated on 7-Apr-2024Gene type: protein coding
Also known as: My013; C6orf66; HRPAP20; HSPC125; MC1DN15; bA22L21.1
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- Go to complete Gene record for NDUFAF4
- Go to Variation Viewer for NDUFAF4 variants
Summary
NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene are a cause of mitochondrial complex I deficiency. [provided by RefSeq, Oct 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Mitochondrial complex 1 deficiency, nuclear type 15 | See labs |
Genomic context
- Location:
- 6q16.1
- Sequence:
- Chromosome: 6; NC_000006.12 (96889315..96897891, complement)
- Total number of exons:
- 3
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NDUFAF4 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
- NDUFAF4 database
- 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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