LMPD Database

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LMP004370

Record overview

LMPD IDLMP004370
Gene ID27235
SpeciesHomo sapiens (Human)
Gene Namecoenzyme Q2 4-hydroxybenzoate polyprenyltransferase
Gene SymbolCOQ2
SynonymsCL640; COQ10D1; MSA1
Alternate names4-hydroxybenzoate polyprenyltransferase, mitochondrial; PHB:polyprenyltransferase; coenzyme Q2 homolog, prenyltransferase; para-hydroxybenzoate-polyprenyltransferase, mitochondrial
Chromosome4
Map Location4q21.23
EC Number2.5.1.39
SummaryThis 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]
OrthologsView orthologs and multiple alignments for COQ2

Proteins

4-hydroxybenzoate polyprenyltransferase, mitochondrial
Refseq ID:NP_056512
Protein GI:260656052
UniProt ID:Q96H96
mRNA ID:NM_015697
Length:421
RefSeq Status:REVIEWED
MTPISQVRMRKGSAHTAAQPGRLGLHPAGATAHACRGMTSIRARPGLTSAMLGSRAAGFARGLRAVALAWLPGWRGRSFALARAAGAPHGGDLQPPACPE
PRGRQLSLSAAAVVDSAPRPLQPYLRLMRLDKPIGTWLLYLPCTWSIGLAAEPGCFPDWYMLSLFGTGAILMRGAGCTINDMWDQDYDKKVTRTANRPIA
AGDISTFQSFVFLGGQLTLALGVLLCLNYYSIALGAGSLLLVITYPLMKRISYWPQLALGLTFNWGALLGWSAIKGSCDPSVCLPLYFSGVMWTLIYDTI
YAHQDKRDDVLIGLKSTALRFGENTKPWLSGFSVAMLGALSLVGVNSGQTAPYYAALGAVGAHLTHQIYTLDIHRPEDCWNKFISNRTLGLIVFLGIVLG
NLWKEKKTDKTKKGIENKIEN