Entity Details

Primary name COQ4_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9Y3A0
EntryNameCOQ4_HUMAN
FullNameUbiquinone biosynthesis protein COQ4 homolog, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length265
SequenceStatuscomplete
DateCreated2002-10-19
DateModified2021-06-02

Ontological Relatives

GenesCOQ4

GO terms

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GOName
GO:0005739 mitochondrion
GO:0006744 ubiquinone biosynthetic process
GO:0031314 extrinsic component of mitochondrial inner membrane
GO:0032991 protein-containing complex

Subcellular Location

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Subcellular Location
Mitochondrion inner membrane

Domains

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DomainNameCategoryType
IPR007715 Ubiquinone biosynthesis protein Coq4FamilyFamily
IPR027540 Ubiquinone biosynthesis protein Coq4, eukaryotesFamilyFamily

Diseases

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Disease IDSourceNameDescription
616276 OMIMCoenzyme Q10 deficiency, primary, 7 (COQ10D7)An autosomal recessive disorder resulting from mitochondrial dysfunction and characterized by decreased levels of coenzyme Q10, and severe cardiac or neurologic symptoms soon after birth, usually resulting in death. Rarely, symptoms may have later onset. The disease is caused by variants affecting the gene represented in this entry.

Interactions

7 interactions