DRD2 1 Allele - CISMeF

Preferred Label : DRD2 1 Allele;

NCIt synonyms : DRD2 A1 Allele; Dopamine Receptor D2 A1 Allele; DRD2-A1 Allele; TaqI A1 Allele;

NCIt definition : Human DRD2 Gene at 11q23 encodes Dopamine Receptor D2, a G-protein coupled receptor that inhibits adenylyl cyclase activity. Missense mutation in DRD2 causes myoclonus dystonia; other mutations have been associated with schizophrenia. Alternative splicing results in two different isoforms. A third variant has been described, but it has not been determined whether this form is normal or due to aberrant splicing. Different alleles are associated with increased incidence of substance abuse. The A1 allele has been associated with alcoholism. (NCI);

GenBank Accession Number : NM_000795;

Détails

Origin ID

C19799;

UMLS CUI

C1333251;

OMIM relation
- Dopamine receptor d2 [OMIM gene]
See also inter- (CISMeF)
- Dopamine receptor d2 [OMIM gene]
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_associated_with_disease
- Schizophrenia [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 11q23 [NCIt concept]
gene_plays_role_in_process
- G Protein-Coupled Receptor Signaling [NCIt concept]
- Ligand Binding [NCIt concept]
- Neuronal Transmission [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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