COA6 cytochrome c oxidase assembly factor 6

Gene ID: 388753, updated on 17-Mar-2024
Gene type: protein coding
Also known as: C1orf31; CEMCOX4; MC4DN13

Summary

This gene encodes a member of the cytochrome c oxidase subunit 6B family. The encoded protein associates with cytochrome c oxidase may act has an cytochrome c oxidase mitochondrial respiratory complex VI assembly factor. Mutations in this gene may be associated with fatal infantile cardiomyopathy. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 MedGen: C4225304OMIM: 616501GeneReviews: Not available	See labs

Genomic context

Location:: 1q42.2

Sequence:: Chromosome: 1; NC_000001.11 (234373456..234385080)

Total number of exons:: 4

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 COA6 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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