Entity Details

Primary name CX6A2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ02221
EntryNameCX6A2_HUMAN
FullNameCytochrome c oxidase subunit 6A2, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length97
SequenceStatuscomplete
DateCreated1993-07-01
DateModified2021-06-02

Ontological Relatives

GenesCOX6A2

GO terms

Show/Hide Table
GOName
GO:0004129 cytochrome-c oxidase activity
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

Subcellular Location

Show/Hide Table
Subcellular Location
Mitochondrion inner membrane

Domains

Show/Hide Table
DomainNameCategoryType
IPR001349 Cytochrome c oxidase, subunit VIaFamilyFamily
IPR018507 Cytochrome c oxidase, subunit VIa, conserved siteSiteConserved site
IPR036418 Cytochrome c oxidase, subunit VIa superfamilyFamilyHomologous superfamily

Diseases

Show/Hide Table
Disease IDSourceNameDescription
619062 OMIMMitochondrial complex IV deficiency, nuclear type 18 (MC4DN18)An autosomal recessive, muscle-specific, mitochondrial disorder with onset in infancy. MC4DN18 is characterized by hypotonia, limb and facial muscle weakness, and high arched palate. Some patients have respiratory insufficiency at birth and cardiomyopathy. Patient skeletal muscle shows decreased levels and activity of mitochondrial respiratory complex IV. The disease is caused by variants affecting the gene represented in this entry.

Drugs

Show/Hide Table
DrugNameSourceType
DB02659 Cholic AcidDrugbanksmall molecule
DB04464 N-FormylmethionineDrugbanksmall molecule

Interactions

5 interactions