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COX14

Synonyms
C12orf62, MC4DN10, PCAG1
External resources
Summary
This gene encodes a small single-pass transmembrane protein that localizes to mitochondria. This protein may play a role in coordinating the early steps of cytochrome c oxidase (COX; also known as complex IV) subunit assembly and, in particular, the synthesis and assembly of the COX I subunit of the holoenzyme. Mutations in this gene have been associated with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
1,104
Likely benign
67
Benign
70

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on COX14 gene.

Phenotype class
Patients in 3billion (%)

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