Aliases for COX17 Gene
External Ids for COX17 Gene
Previous GeneCards Identifiers for COX17 Gene
Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component 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 function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be involved in the recruitment of copper to mitochondria for incorporation into the COX apoenzyme. This protein shares 92% amino acid sequence identity with mouse and rat Cox17 proteins. This gene is no longer considered to be a candidate gene for COX deficiency. A pseudogene COX17P has been found on chromosome 13. [provided by RefSeq, Jul 2008]
GeneCards Summary for COX17 Gene
COX17 (Cytochrome C Oxidase Copper Chaperone COX17) is a Protein Coding gene. Diseases associated with COX17 include Spinal Muscular Atrophy, Distal, X-Linked 3 and Occipital Horn Syndrome. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Copper homeostasis. Gene Ontology (GO) annotations related to this gene include copper ion binding and copper chaperone activity.
UniProtKB/Swiss-Prot Summary for COX17 Gene
Copper metallochaperone essential for the assembly of the mitochondrial respiratory chain complex IV (CIV), also known as cytochrome c oxidase. Binds two copper ions and delivers them to the metallochaperone SCO1 which transports the copper ions to the Cu(A) site on the cytochrome c oxidase subunit II (MT-CO2/COX2).