COA8 cytochrome c oxidase assembly factor 8

Gene ID: 84334, updated on 5-Mar-2024
Gene type: protein coding
Also known as: APOP; APOP1; APOPT1; MC4DN17; C14orf153

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 MedGen: C5436718OMIM: 619061GeneReviews: Not available	See labs

Genomic context

Location:: 14q32.33

Sequence:: Chromosome: 14; NC_000014.9 (103562960..103590899)

Total number of exons:: 8

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

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

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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