Property Summary

NCBI Gene PubMed Count 18
Grant Count 4
R01 Count 4
Funding $297,148.25
PubMed Score 11.76
PubTator Score 10.46

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession P12074 B2R500 O43714 Q32Q37
Symbols COX6A
CMTRID
COX6AL

Gene

PANTHER Protein Class (2)

Gene RIF (7)

PMID Text
25666558 We demonstrate a developmental isoform switch of COX6A and COX7A subunits in human and mouse skeletal muscle
25152455 Mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease.
22419111 Tat-induced mitochondrial membrane permeabilization is associated with inhibition of cytochrome c oxidase (COX) activity by Tat in disrupted mitochondria from human samples
20877624 Observational study of gene-disease association. (HuGE Navigator)
20307258 Novel insights into the assembly and function of human nuclear-encoded cytochrome c oxidase subunits 6a
19843159 Data found that subunits Cox6a, Cox6b and Cox7a assembled into pre-existing complex IV, while Cox4-1 and Cox6c subunits assembled into subcomplexes that may represent rate-limiting intermediates.
18549809 COX6A1 was identified as the protein that inhibits yeast cells Bax-sensitivity and protects mammalian cells from 4-HPR-induced apoptosis.

AA Sequence

MAVVGVSSVSRLLGRSRPQLGRPMSSGAHGEEGSARMWKTLTFFVALPGVAVSMLNVYLKSHHGEHERPE      1 - 70
FIAYPHLRIRTKPFPWGDGNHTLFHNPHVNPLPTGYEDE                                    71 - 109
//

Text Mined References (20)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25666558 2015 Investigating the role of the physiological isoform switch of cytochrome c oxidase subunits in reversible mitochondrial disease.
25152455 2014 A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20307258 2010 Novel insights into the assembly and function of human nuclear-encoded cytochrome c oxidase subunits 4, 5a, 6a, 7a and 7b.
19843159 2009 Assembly of nuclear DNA-encoded subunits into mitochondrial complex IV, and their preferential integration into supercomplex forms in patient mitochondria.
18549809 2008 Identification of cytochrome c oxidase subunit 6A1 as a suppressor of Bax-induced cell death by yeast-based functional screening.
16541075 2006 The finished DNA sequence of human chromosome 12.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
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