NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3
Gene ID: 25915, updated on 7-Apr-2024Gene type: protein coding
Also known as: 2P1; E3-3; C3orf60; MC1DN18
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- Go to complete Gene record for NDUFAF3
- Go to Variation Viewer for NDUFAF3 variants
Summary
This gene encodes a mitochondrial complex I assembly protein that interacts with complex I subunits. Mutations in this gene cause mitochondrial complex I deficiency, a fatal neonatal disorder of the oxidative phosphorylation system. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Mitochondrial complex 1 deficiency, nuclear type 18 | See labs |
Genomic context
- Location:
- 3p21.31
- Sequence:
- Chromosome: 3; NC_000003.12 (49020452..49023495)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NDUFAF3 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
- NDUFAF3 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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