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MGP004942

UniProt Annotations

Entry Information
Gene Namecoenzyme Q2 4-hydroxybenzoate polyprenyltransferase
Protein EntryCOQ2_HUMAN
UniProt IDQ96H96
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96H96-1; Sequence=Displayed; Name=3; IsoId=Q96H96-3; Sequence=VSP_017677, VSP_017678;
Catalytic ActivityA polyprenyl diphosphate + 4-hydroxybenzoate = diphosphate + a 4-hydroxy-3-polyprenylbenzoate. {ECO:0000269|PubMed:15153069}.
DiseaseCoenzyme Q10 deficiency, primary, 1 (COQ10D1) [MIM:607426]: An autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form. {ECO:0000269|PubMed:16400613, ECO:0000269|PubMed:17855635}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseMultiple system atrophy 1 (MSA1) [MIM:146500]: A progressive neurodegenerative disorder clinically characterized by parkinsonism, cerebellar ataxia, and autonomic, urogenital, and pyramidal dysfunction in various combinations. Pathologically, it is characterized by degeneration of striatonigral and olivopontocerebellar structures, and glial cytoplasmic inclusions that consist of abnormally phosphorylated alpha-synuclein or tau. {ECO:0000269|PubMed:23758206}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
FunctionCatalyzes the prenylation of para-hydroxybenzoate (PHB) with an all-trans polyprenyl group. Mediates the second step in the final reaction sequence of coenzyme Q (CoQ) biosynthesis, which is the condensation of the polyisoprenoid side chain with PHB. {ECO:0000269|PubMed:15153069}.
PathwayCofactor biosynthesis; ubiquinone biosynthesis.
Sequence CautionSequence=AAC72955.1; Type=Frameshift; Positions=172; Evidence={ECO:0000305}; Sequence=AAH20728.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAF18241.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
SimilarityBelongs to the UbiA prenyltransferase family. {ECO:0000305}.
Subcellular LocationMitochondrion membrane {ECO:0000305}; Multi- pass membrane protein {ECO:0000305}.
Tissue SpecificityWidely expressed. Present in all of the tissues tested. Expressed at higher level in skeletal muscle, adrenal glands and the heart. {ECO:0000269|PubMed:15153069}.
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