COX10

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Cytochrome c oxidase assembly homolog 10 (yeast)
Identifiers
Symbol COX10
External IDs OMIM602125 MGI1917633 HomoloGene80170 GeneCards: COX10 Gene
EC number 2.5.1.-
RNA expression pattern
PBB GE COX10 203858 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1352 70383
Ensembl ENSG00000006695 ENSMUSG00000042148
UniProt Q12887 Q8CFY5
RefSeq (mRNA) NM_001303 NM_178379
RefSeq (protein) NP_001294 NP_848466
Location (UCSC) Chr 17:
13.97 – 14.11 Mb
Chr 11:
63.96 – 64.08 Mb
PubMed search [1] [2]

Protoheme IX farnesyltransferase, mitochondrial is an enzyme that in humans is encoded by the COX10 gene.[1][2]

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 heme A:farnesyltransferase, which is not a structural subunit but required for the expression of functional COX and functions in the maturation of the heme A prosthetic group of COX. This protein is predicted to contain 7-9 transmembrane domains localized in the mitochondrial inner membrane. A gene mutation, which results in the substitution of a lysine for an asparagine (N204K), is identified to be responsible for cytochrome c oxidase deficiency. In addition, this gene is disrupted in patients with CMT1A (Charcot-Marie-Tooth type 1A) duplication and with HNPP (hereditary neuropathy with liability to pressure palsies) deletion.[2]

References[edit]

  1. ^ Murakami T, Reiter LT, Lupski JR (Jul 1997). "Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene". Genomics 42 (1): 161–4. doi:10.1006/geno.1997.4711. PMID 9177788. 
  2. ^ a b "Entrez Gene: COX10 COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)". 

Further reading[edit]