Gene: SCO2
Alternate names for this Gene: CEMCOX1|ECGF1|Gliostatin|MC4DN2|MYP6|PD-ECGF|SCO1L|TP|TYMP|TdRPase
Gene Summary: Cytochrome c oxidase (COX) catalyzes the transfer of electrons from cytochrome c to molecular oxygen, which helps to maintain the proton gradient across the inner mitochondrial membrane that is necessary for aerobic ATP production. Human COX is a multimeric protein complex that requires several assembly factors; this gene encodes one of the COX assembly factors. The encoded protein is a metallochaperone that is involved in the biogenesis of cytochrome c oxidase subunit II. Mutations in this gene are associated with fatal infantile encephalocardiomyopathy and myopia 6.
Gene is located in Chromosome: 22
Location in Chromosome : 22q13.33
Description of this Gene: synthesis of cytochrome C oxidase 2
Type of Gene: protein-coding
Gene: NCAPH2
Alternate names for this Gene: CAPH2
Gene Summary: This gene encodes one of the non-SMC subunits of the condensin II complex. This complex plays an essential role in mitotic chromosome assembly. Alternate splicing of this gene results in multiple transcript variants.
Gene is located in Chromosome: 22
Location in Chromosome : 22q13.33
Description of this Gene: non-SMC condensin II complex subunit H2
Type of Gene: protein-coding