NDUFB7 NADH:ubiquinone oxidoreductase subunit B7
Gene ID: 4713, updated on 19-Sep-2024Gene type: protein coding
Also known as: B18; CI-B18; MC1DN39
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- Go to complete Gene record for NDUFB7
- Go to Variation Viewer for NDUFB7 variants
Summary
The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It is located at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Mitochondrial complex I deficiency, nuclear type 39 | not available |
Genomic context
- Location:
- 19p13.12
- Sequence:
- Chromosome: 19; NC_000019.10 (14566078..14572066, complement)
- Total number of exons:
- 4
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NDUFB7 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
- Variation ViewerRelated Variants
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