COQ2

GENE INFORMATION

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Gene name

COQ2 (HGNC Symbol)

Synonyms

CL640, FLJ26072

Description

Coenzyme Q2 4-hydroxybenzoate polyprenyltransferase (HGNC Symbol)

Entrez gene summary

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]

Chromosome

4

Cytoband

q21.23

Chromosome location (bp)

83261536 - 83284914

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000173085 (version 78.38)

Entrez gene

27235

UniProt

Q96H96 (UniProt - Evidence at protein level)

neXtProt

NX_Q96H96

Antibodypedia

COQ2 antibodies
 

PROTEIN VIEW

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COQ2-001
 
COQ2-003
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

COQ2-001 ENSP00000310873
ENST00000311469
Q96H96
Show all »
Show » Show » 421 45.6 No 8
COQ2-003 ENSP00000311835
ENST00000311461
E2QRG7
Show all »
Show » Show » 328 35.5 No 7