COA8 cytochrome c oxidase assembly factor 8
Gene ID: 84334, updated on 19-Sep-2024Gene type: protein coding
Also known as: APOP; APOP1; APOPT1; MC4DN17; C14orf153
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- Go to complete Gene record for COA8
- Go to Variation Viewer for COA8 variants
Summary
This gene encodes a protein that localizes to the mitochondria, where it stimulates the release of cytochrome c, thereby promoting programmed cell death. Mutations in this gene have been found in individuals with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Biological insights from 108 schizophrenia-associated genetic loci. GeneReviews: Not available | |
Mitochondrial complex 4 deficiency, nuclear type 17 | See labs |
Genomic context
- Location:
- 14q32.33
- Sequence:
- Chromosome: 14; NC_000014.9 (103562960..103590899)
- Total number of exons:
- 8
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for COA8 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
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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