NDUFB8 NADH:ubiquinone oxidoreductase subunit B8
Gene ID: 4714, updated on 3-Nov-2024Gene type: protein coding
Also known as: ASHI; CI-ASHI; MC1DN32
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- Go to complete Gene record for NDUFB8
- Go to Variation Viewer for NDUFB8 variants
Summary
Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrion. Part of mitochondrial inner membrane and respiratory chain complex I. Implicated in nuclear type mitochondrial complex I deficiency 32. Biomarker of Alzheimer's disease and Parkinson's disease. [provided by Alliance of Genome Resources, Nov 2024]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu GeneReviews: Not available | |
| Mitochondrial complex 1 deficiency, nuclear type 32 | See labs |
Genomic context
- Location:
- 10q24.31
- Sequence:
- Chromosome: 10; NC_000010.11 (100523729..100529923, complement)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NDUFB8 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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