COX10 information

COX10
Identifiers
Aliases	COX10, heme A:farnesyltransferase cytochrome c oxidase assembly factor, cytochrome c oxidase assembly factor heme A:farnesyltransferase MC4DN3
External IDs	OMIM: 602125; MGI: 1917633; HomoloGene: 80170; GeneCards: COX10; OMA:COX10 - orthologs
Gene location (Human)
Chr.	Chromosome 17 (human)
End	14,231,736 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	63,970,294 bp
RNA expression pattern
	Top expressed in
	tibialis anterior muscle; ; thoracic diaphragm; ; myocardium of left ventricle; ; deltoid muscle; ; gastrocnemius muscle; ; triceps brachii muscle; ; vastus lateralis muscle; ; muscle of thigh; ; secondary oocyte; ; biceps brachii;
	Top expressed in
	zygote; ; interventricular septum; ; otic vesicle; ; secondary oocyte; ; primary oocyte; ; muscle of thigh; ; myocardium of ventricle; ; skeletal muscle tissue; ; extraocular muscle; ; digastric muscle;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	transferase activity; farnesyltranstransferase activity; cytochrome-c oxidase activity; protoheme IX farnesyltransferase activity; transferase activity, transferring alkyl or aryl (other than methyl) groups;
Cellular component	integral component of membrane; membrane; mitochondrial membranes; cytochrome complex; mitochondrial inner membrane; nucleolus; mitochondrion; cytosol;
Biological process	cytochrome complex assembly; mitochondrial fission; mitochondrion organization; heme biosynthetic process; aerobic respiration; mitochondrial electron transport, cytochrome c to oxygen; respiratory chain complex IV assembly; cellular respiration; heme O biosynthetic process; heme A biosynthetic process; proton transmembrane transport;
	Sources:Amigo / QuickGO
Orthologs
	1352
	70383
	ENSG00000006695
	ENSMUSG00000042148
	Q12887
	Q8CFY5
	NM_001303
	NM_178379
	NP_001294
	NP_848466
	Wikidata
View/Edit Human	View/Edit Mouse

Protoheme IX farnesyltransferase, mitochondrial is an enzyme that in humans is encoded by the COX10 gene.^[5]^[6] 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, COX10, 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. 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.^[6]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000006695 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000042148 – 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.
^ Murakami T, Reiter LT, Lupski JR (May 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.
^ ^a ^b "Entrez Gene: COX10 COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)". This article incorporates text from this source, which is in the public domain.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000006695 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000042148 – Ensembl, 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.

[pmid9177788-5] Murakami T, Reiter LT, Lupski JR (May 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.

[entrez-6] "Entrez Gene: COX10 COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)". This article incorporates text from this source, which is in the public domain.

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