GeneID: 244



Names

Common Name: COMT Type: Gene
Chromosome: 22 (NC_000022.11) Locus: NG_011526.1 (COMT)
HUGO Symbol: COMT Full Name: catechol-O-methyltransferase
Exons: 6 Introns: 5

Description:
This gene encodes the enzyme catechol-O-methyltransferase, which is involved in the catabolism of catecholamine neurotransmitters, such as dopamine, epinephrine and norepinephrine. It also shortens the biological half-lives of certain neuroactive drugs, like L-DOPA, alpha-methyl DOPA and isoproterenol. The enzyme introduces a methyl group from S-adenosyl methionine to the catecholamine. COMT is found in two protein forms; a soluble cytoplasmic form (S-COMT) and a larger membrane-bound form (MB-COMT). Both forms are found in most tissues, but the latter predominates in the brain. COMT plays a key role in the perception of pain. COMT gene variants have been associated with increased frequency of pain-related emergency room visit in patients with sickle cell disease.

Synonyms: HEL-S-98n

Comments:
N/A

Number of entries/variants: 1

IthaScore

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Publications / Origin

  1. Myöhänen TT, Männistö PT, Distribution and functions of catechol-O-methyltransferase proteins: do recent findings change the picture?, Int. Rev. Neurobiol. , 95(0), 29-47, 2010 PubMed
  2. Chen J, Song J, Yuan P, Tian Q, Ji Y, Ren-Patterson R, Liu G, Sei Y, Weinberger DR, Orientation and cellular distribution of membrane-bound catechol-O-methyltransferase in cortical neurons: implications for drug development., J. Biol. Chem. , 286(40), 34752-60, 2011 PubMed
  3. Zhang Y, Belfer I, Nouraie M, Zeng Q, Goel R, Chu Y, Krasiy I, Krishnamurti L, Association of genetic variation ingene with pain related to sickle cell disease in patients from the walk-PHaSST study., J Pain Res , 11(0), 537-543, 2018 PubMed
Created on 2018-04-03 19:52:01, Last reviewed on (Show full history)


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