Catechol-O-Methyltransferase

Alternative Names

  • COMT
  • Catechol-O-Methyltransferase Activity, Low, in Red Cells

Associated Diseases

Type 2 Diabetes Mellitus
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OMIM Number

116790

NCBI Gene ID

1312

Uniprot ID

P21964

Length

28,369 bases

No. of Exons

8

No. of isoforms

2

Protein Name

Catechol O-methyltransferase

Molecular Mass

30037 Da

Amino Acid Count

271

Genomic Location

chr22:19,941,607-19,969,975

Gene Map Locus
22q11.21

Description

Catechol-O-methyltransferase catalyzes the transfer of a methyl group from S-adenosylmethionine to catecholamines, including the neurotransmitters dopamine, epinephrine, and norepinephrine. This O-methylation results in one of the major degradative pathways of the catecholamine transmitters. In addition to its role in the metabolism of endogenous substances, COMT is important in the metabolism of catechol drugs used in the treatment of hypertension, asthma, and Parkinson disease. COMT is found in two forms in tissues, a soluble form (S-COMT) and a membrane-bound form (MB-COMT). The differences between S-COMT and MB-COMT reside within the N-termini. Several transcript variants are formed through the use of alternative translation initiation sites and promoters. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000754.3:c.472G>ALebanonchr22:19963748Drug ResponseDrug ResponseNG_011526.1:g.27009G>A; NM_000754.3:c.472G>A; NP_000745.1:p.Val158Met468017591
NM_000754.4:c.-92+1987T>CUnited Arab EmiratesNC_000022.11:g.19943884T>CAssociationType 2 Diabetes MellitusNG_011526.1:g.7145T>C; NM_000754.4:c.-92+1987T>C; NP_000745.1:p.?933271
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