COX17
![]() | This article may be too technical for most readers to understand.(October 2010) |
COX17 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | COX17, cytochrome c oxidase copper chaperone, cytochrome c oxidase copper chaperone COX17 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 604813; MGI: 1333806; HomoloGene: 38089; GeneCards: COX17; OMA:COX17 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Cytochrome c oxidase copper chaperone is a protein that in humans is encoded by the COX17 gene.[5][6]
Function
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.[6]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000138495 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000046516 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Amaravadi R, Glerum DM, Tzagoloff A (Mar 1997). "Isolation of a cDNA encoding the human homolog of COX17, a yeast gene essential for mitochondrial copper recruitment". Hum Genet. 99 (3): 329–33. doi:10.1007/s004390050367. PMID 9050918.
- ^ a b "Entrez Gene: COX17 COX17 cytochrome c oxidase assembly homolog (S. cerevisiae)".
Further reading
External links
- COX17 human gene location in the UCSC Genome Browser.
- COX17 human gene details in the UCSC Genome Browser.