Entity Details

Primary name COX6A1
Entity type gene
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Details

PrimaryID1337
RefseqGeneNG_034299
SymbolCOX6A1
Namecytochrome c oxidase subunit 6A1
Chromosome12
Location12q24.31
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1993-05-12
ModificationDate2021-06-22

Ontological Relatives

UniProt IDsCX6A1_HUMAN

GO terms

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GOName
GO:0004129 cytochrome-c oxidase activity
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005751 mitochondrial respiratory chain complex IV
GO:0006091 generation of precursor metabolites and energy
GO:0006123 mitochondrial electron transport, cytochrome c to oxygen
GO:0016021 integral component of membrane
GO:0030234 enzyme regulator activity

Diseases

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Disease IDSourceNameDescription
616039 OMIMCharcot-Marie-Tooth disease, recessive, intermediate type, D (CMTRID)A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. The disease is caused by variants affecting the gene represented in this entry.