Gene: VPS13B

Alternate names for this Gene: CHS1|COH1

Gene Summary: This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene.

Gene is located in Chromosome: 8

Location in Chromosome : 8q22.2

Description of this Gene: vacuolar protein sorting 13 homolog B

Type of Gene: protein-coding

Gene: COX6C

Alternate names for this Gene: -

Gene Summary: Cytochrome c oxidase, the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes subunit VIc, which has 77% amino acid sequence identity with mouse subunit VIc. This gene is up-regulated in prostate cancer cells. A pseudogene has been found on chromosomes 16p12.

Gene is located in Chromosome: 8

Location in Chromosome : 8q22.2

Description of this Gene: cytochrome c oxidase subunit 6C

Type of Gene: protein-coding