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catechol-O-methyltransferase
Also known as: HEL-S-98n
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. [provided by RefSeq, Sep 2008]
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
0 submitted variants in ClinVar
COMT · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
Links to major genomics databases and tools
Active and recruiting trials from ClinicalTrials.gov
Links to major genomics databases and tools
Catechol-O-methyltransferase catalyzes the O-methylation and inactivation of catecholamine neurotransmitters including dopamine, epinephrine, and norepinephrine, representing a major degradative pathway for these transmitters. This gene is highly tolerant to loss-of-function variants and is primarily associated with variation in catechol-O-methyltransferase activity rather than Mendelian disease. The enzyme also metabolizes catechol-based medications used to treat hypertension, asthma, and Parkinson disease.
Rare missense and truncating variants are carried at similar rates in COMT; this gene does not show strong loss-of-function constraint by this measure. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.