COMT Chromosome 22

Catechol-O-methyltransferase
162 variants 161 Drug Response 1 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
"MicroRNA protein coding host genes|7BS small molecule methyltransferases|Small molecule methyltransferases"
Locus Type
gene with protein product
Location
22q11.21
Ensembl
ENSG00000093010
Associated Conditions (2)
Tramadol response
Bardet-Biedl syndrome
Key Variants
All Variants (162)
RSID Category Clinical Significance Conditions
RS778498490 Drug Response drug response Tramadol response, Tramadol response
RS887838460 Drug Response drug response Tramadol response, Tramadol response
RS893303657 Drug Response drug response Tramadol response, Tramadol response
RS898275789 Drug Response drug response Tramadol response, Tramadol response
RS910999769 Drug Response drug response Tramadol response, Tramadol response
RS934034534 Drug Response drug response Tramadol response, Tramadol response
RS947572832 Drug Response drug response Tramadol response, Tramadol response
RS972946462 Drug Response drug response Tramadol response, Tramadol response
RS977343429 Drug Response drug response Tramadol response, Tramadol response
RS982843466 Drug Response drug response Tramadol response, Tramadol response
RS987022208 Drug Response drug response Tramadol response, Tramadol response
RS2517476743 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
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