NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6
Gene ID: 137682, updated on 4-Jan-2025Gene type: protein coding
Also known as: FRTS5; C8orf38; MC1DN17; lncREST
- See all available tests in GTR for this gene
- Go to complete Gene record for NDUFAF6
- Go to Variation Viewer for NDUFAF6 variants
Summary
This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain through regulation of subunit ND1 biogenesis. Mutations in this gene are associated with complex I enzymatic deficiency. [provided by RefSeq, Nov 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Fanconi renotubular syndrome 5 | See labs |
| Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. GeneReviews: Not available | |
| Mitochondrial complex 1 deficiency, nuclear type 17 | See labs |
Genomic context
- Location:
- 8q22.1
- Sequence:
- Chromosome: 8; NC_000008.11 (94895799..95118496)
- Total number of exons:
- 27
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NDUFAF6 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
- NDUFAF6 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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