NP_056512.5
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
35,468 Da
NCBI Official Full Name
4-hydroxybenzoate polyprenyltransferase, mitochondrial
NCBI Official Synonym Full Names
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
NCBI Protein Information
4-hydroxybenzoate polyprenyltransferase, mitochondrial; PHB:polyprenyltransferase; coenzyme Q2 homolog, prenyltransferase; para-hydroxybenzoate-polyprenyltransferase, mitochondrial
UniProt Protein Name
4-hydroxybenzoate polyprenyltransferase, mitochondrial
UniProt Synonym Protein Names
COQ2 homolog; hCOQ2; Para-hydroxybenzoate--polyprenyltransferase; PHB:polyprenyltransferase
UniProt Synonym Gene Names
UniProt Entry Name
COQ2_HUMAN
NCBI Summary for COQ2
This gene encodes an enzyme that functions in the final steps in the biosynthesis of CoQ (ubiquinone), a redox carrier in the mitochondrial respiratory chain and a lipid-soluble antioxidant. This enzyme, which is part of the coenzyme Q10 pathway, catalyzes the prenylation of parahydroxybenzoate with an all-trans polyprenyl group. Mutations in this gene cause coenzyme Q10 deficiency, a mitochondrial encephalomyopathy, and also COQ2 nephropathy, an inherited form of mitochondriopathy with primary renal involvement. [provided by RefSeq, Oct 2009]
UniProt Comments for COQ2
COQ2: 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. Defects in COQ2 are the cause of coenzyme Q10 deficiency, primary, type 1 (COQ10D1). 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. Belongs to the UbiA prenyltransferase family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Mitochondrial; Membrane protein, multi-pass; Transferase; EC 2.5.1.39; Membrane protein, integral; Cofactor and Vitamin Metabolism - ubiquinone and other terpenoid-quinone biosynthesis
Chromosomal Location of Human Ortholog: 4q21.23
Cellular Component: mitochondrial inner membrane; integral to membrane
Molecular Function: 4-hydroxybenzoate decaprenyltransferase activity; 4-hydroxybenzoate nonaprenyltransferase activity
Biological Process: ubiquinone biosynthetic process; isoprenoid biosynthetic process; glycerol metabolic process
Disease: Multiple System Atrophy 1, Susceptibility To; Coenzyme Q10 Deficiency, Primary, 1
Research Articles on COQ2
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Products associated with COQ2 elisa kit
Pathways associated with COQ2 elisa kit
Diseases associated with COQ2 elisa kit
|