COX10

GENE INFORMATION

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Gene name

COX10

Synonyms

Description

cytochrome c oxidase assembly homolog 10 (yeast) (HGNC Symbol)

Entrez gene summary

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. [provided by RefSeq, Jul 2008]

Chromosome

17 (Chromosome progress)

Cytoband

p12

Chromosome location (bp)

13972813 - 14111994

Ensembl

ENSG00000006695 (version 73.37)

Entrez gene

1352

UniProt

Q12887 (UniProt - Evidence at protein level)

neXtProt

NX_Q12887

Antibodypedia

COX10 antibodies
 

PROTEIN VIEW

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COX10-001
 
COX10-002
 
COX10-003
 
COX10-004
 
COX10-201
 
COX10-202
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

COX10-001 ENSP00000261643
ENST00000261643
Q12887
Show all »
Show » Show » 443 48.9 No 8
COX10-002 ENSP00000397750
ENST00000429152
H7C101
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171 19.7 No 0
COX10-003 ENSP00000462190
ENST00000580561
J3KRW4
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62 7.4 No 0
COX10-004 ENSP00000462512
ENST00000581931
J3KSJ3
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168 19.4 No 0
COX10-201 ENSP00000439494
ENST00000536205
B4DJ50
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Show » Show » 251 27.6 No 6
COX10-202 ENSP00000443354
ENST00000537334
B4DFR1
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Show » Show » 226 24.5 No 7