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COX17

From Wikipedia, the free encyclopedia
COX17
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCOX17, cytochrome c oxidase copper chaperone, cytochrome c oxidase copper chaperone COX17
External IDsOMIM: 604813; MGI: 1333806; HomoloGene: 38089; GeneCards: COX17; OMA:COX17 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_005694

NM_001017429

RefSeq (protein)

NP_005685
NP_001368931
NP_001368932

NP_001017429

Location (UCSC)Chr 3: 119.65 – 119.68 MbChr 16: 38.17 – 38.17 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Cytochrome c oxidase copper chaperone is a protein that in humans is encoded by the COX17 gene.[5][6]

Function

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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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000138495Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000046516Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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. S2CID 30340147.
  6. ^ a b "Entrez Gene: COX17 COX17 cytochrome c oxidase assembly homolog (S. cerevisiae)".

Further reading

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