COMT wt Allele

Preferred Label : COMT wt Allele;

NCIt synonyms : Catechol-O-Methyltransferase wt Allele;

NCIt definition : Human COMT wild-type allele is located in the vicinity of 22q11.21 and is approximately 27 kb in length. This allele, which encodes catechol O-methyltransferase protein, plays a role in the O-methylation-mediated inactivation of catecholamine neurotransmitters and catechol hormones. Defects in the COMT gene are associated with susceptibility to neurological disorders such as schizophrenia and bipolar disorder.;

NCIt note : Loss of COMT gene product function occurs both via heritable functional gene polymorphisms and gene deletion.;

GenBank Accession Number : NM_000754;

Details

Origin ID

C51044;

UMLS CUI

C1707139;

OMIM relation
- Catechol-o-methyltransferase [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 22: 18303863-18331084 [NCIt concept]
gene_in_chromosomal_location
- 22q11.21 [NCIt concept]
gene_is_element_in_pathway
- Steroid Hormone Biosynthesis Pathway [NCIt concept]
- Tyrosine Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Drug Metabolism [NCIt concept]
- Methylation [NCIt concept]

Keyword's position in hierarchy(ies) :

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