SLC6A3 wt Allele

Preferred Label : SLC6A3 wt Allele;

NCIt synonyms : Solute Carrier Family 6 (Neurotransmitter Transporter, Dopamine), Member 3 Gene; DAT; DAT1; PKDYS; Solute Carrier Family 6 (Neurotransmitter Transporter), Member 3 wt Allele;

NCIt definition : Human SLC6A3 wild-type allele is located in the vicinity of 5p15.3 and is approximately 53 kb in length. This allele, which encodes sodium-dependent dopamine transporter protein, is involved in sodium-dependent internalization of dopamine. Mutation of the gene is associated with infantile Parkinsonism-dystonia.;

GenBank Accession Number : NM_001044;

Details

Origin ID

C113527;

UMLS CUI

C3813713;

Automatic exact mappings (from CISMeF team)
- Alzheimer disease [Radlex concept]
- Infantile dystonia-parkinsonism [ORDO Disease]
- Magnetic tapes [UNESCO concept]
- Parkinsonism-dystonia 1, infantile-onset [OMIM Phenotype]
- Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 [OMIM gene]
- dat [EDAM format]
- solute carrier family 6 member 3 [ORDO Gene]
OMIM relation
- Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 [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_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Alpha-Synuclein Signaling Pathway [NCIt concept]
- Parkinson's Disease Pathway KEGG [NCIt concept]
gene_plays_role_in_process
- Ligand Binding [NCIt concept]
- Neurotransmitter Activity Inhibition [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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