ID:COQ2_HUMAN DESCRIPTION: RecName: Full=4-hydroxybenzoate polyprenyltransferase, mitochondrial; EC=2.5.1.39; AltName: Full=COQ2 homolog; Short=hCOQ2; AltName: Full=Para-hydroxybenzoate--polyprenyltransferase; Short=PHB:polyprenyltransferase; Flags: Precursor; 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. CATALYTIC ACTIVITY: A polyprenyl diphosphate + 4-hydroxybenzoate = diphosphate + a 4-hydroxy-3-polyprenylbenzoate. PATHWAY: Cofactor biosynthesis; ubiquinone biosynthesis. SUBCELLULAR LOCATION: Mitochondrion membrane; Multi-pass membrane protein (Probable). TISSUE SPECIFICITY: Widely expressed. Present in all of the tissues tested. Expressed at higher level in skeletal muscle, adrenal glands and the heart. DISEASE: Defects in COQ2 are the cause of coenzyme Q10 deficiency, primary, type 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. SIMILARITY: Belongs to the UbiA prenyltransferase family. SEQUENCE CAUTION: Sequence=AAC72955.1; Type=Frameshift; Positions=172; Sequence=AAH20728.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAF18241.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COQ2";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF01040 - UbiA prenyltransferase family
ModBase Predicted Comparative 3D Structure on Q96H96
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
