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MT000966

UniProt Annotations

Entry Information

Gene Name	coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
Protein Entry	COQ2_HUMAN
UniProt ID	Q96H96
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96H96-1; Sequence=Displayed; Name=3; IsoId=Q96H96-3; Sequence=VSP_017677, VSP_017678;
Catalytic Activity	A polyprenyl diphosphate + 4-hydroxybenzoate = diphosphate + a 4-hydroxy-3-polyprenylbenzoate. {ECO:0000269\|PubMed:15153069}.
Disease	Coenzyme 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.
Disease	Multiple 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.
Function	Catalyzes 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}.
Pathway	Cofactor biosynthesis; ubiquinone biosynthesis.
Sequence Caution	Sequence=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};
Similarity	Belongs to the UbiA prenyltransferase family. {ECO:0000305}.
Subcellular Location	Mitochondrion membrane {ECO:0000305}; Multi- pass membrane protein {ECO:0000305}.
Tissue Specificity	Widely expressed. Present in all of the tissues tested. Expressed at higher level in skeletal muscle, adrenal glands and the heart. {ECO:0000269\|PubMed:15153069}.