COMT Chromosome 22
Catechol-O-methyltransferase
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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
RS1040891994
drug response
Tramadol response, Tramadol response
Drug Response
RS1042965728
drug response
Tramadol response, Tramadol response
Drug Response
RS1043850772
drug response
Tramadol response, Tramadol response
Drug Response
RS11569716
drug response
Tramadol response, Tramadol response
Drug Response
RS1160435070
drug response
Tramadol response, Tramadol response
Drug Response
RS1191232468
drug response
Tramadol response, Tramadol response
Drug Response
RS1194870751
drug response
Tramadol response, Tramadol response
Drug Response
RS1213698422
drug response
Tramadol response, Tramadol response
Drug Response
RS1223964672
drug response
Tramadol response, Tramadol response
Drug Response
RS1243347237
drug response
Tramadol response, Tramadol response
Drug Response
RS1266810183
drug response
Tramadol response, Tramadol response
Drug Response
RS1281747131
drug response
Tramadol response, Tramadol response
Drug Response
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 |