SLC2A1 wt Allele

Preferred Label : SLC2A1 wt Allele;

NCIt synonyms : Glucose Transporter Type 1 Gene; GLUT1; SLC2A1; Solute Carrier Family 2 (Facilitated Glucose Transporter), Member 1 wt Allele; GTR1; GLUT;

NCIt definition : Human SLC2A1 wild-type allele is located within 1p35-p31.3 and is approximately 33 kb in length. This allele, which encodes solute carrier family 2, facilitated glucose transporter member 1 protein, is involved in the regulation of glucose transport. Mutations that exhibit a premature stop codon in the gene are associated with GLUT1 deficiency syndrome.;

NCIt note : GLUT1 deficiency syndrome results in mental retardation. (Genatlas);

GenBank Accession Number : NM_006516;

Détails

Origin ID

C52298;

UMLS CUI

C1705603;

OMIM relation
- Solute carrier family 2 (facilitated glucose transporter), member 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1p35-p31.3 [NCIt concept]
gene_is_element_in_pathway
- Adipocytokine Signaling Pathway [NCIt concept]
- HIF-1-Alpha Transcription Factor Pathway [NCIt concept]
- HIF-2-Alpha Transcription Factor Pathway [NCIt concept]
- Renal Cell Carcinoma Pathway [NCIt concept]
- Vitamin C in Brain Pathway [NCIt concept]
gene_plays_role_in_process
- Carbohydrate Metabolic Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

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

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