Gene: COX14

Alternate names for this Gene: C12orf62|MC4DN10|PCAG1

Gene 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.

Gene is located in Chromosome: 12

Location in Chromosome : 12q13.12

Description of this Gene: cytochrome c oxidase assembly factor COX14

Type of Gene: protein-coding

rs10747570 in COX14 gene and Diastolic blood pressure PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

rs10747570 in COX14 gene and Systolic Pressure PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.