SLC5A5 wt Allele

Preferred Label : SLC5A5 wt Allele;

NCIt synonyms : Sodium-Iodide Symporter Gene; NIS Gene; SLC5A5; TDH1; Solute Carrier Family 5 (Sodium Iodide Symporter), Member 5 Gene; Solute Carrier Family 5 (Sodium/Iodide Cotransporter), Member 5 wt Allele;

NCIt definition : Human SLC5A5 wild-type allele is located within 19p13.2-p12 and is approximately 22 kb in length. This allele, which encodes sodium/iodide cotransporter protein, plays a role in the mediation of iodide transport into the thyroid. Mutations in the gene are linked to hypothyroidism due to an iodide transport defect.;

NCIt note : The SLC5A5 gene is expressed aberrantly at reduced levels in thyroid carcinoma. (Genatlas);

GenBank Accession Number : NM_000453;

Details

Origin ID

C52303;

UMLS CUI

C1705808;

Automatic exact mappings (from CISMeF team)
- Solute carrier family 5 (sodium iodide symporter), member 5 [OMIM gene]
- Thyroid dyshormonogenesis 1 [OMIM Phenotype]
- solute carrier family 5 member 5 [ORDO Gene]
- thyroid dyshormonogenesis 1 [DO Concept]
OMIM relation
- Solute carrier family 5 (sodium iodide symporter), member 5 [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_in_chromosomal_location
- 19p13.2-p12 [NCIt concept]
gene_plays_role_in_process
- Biosynthetic Process [NCIt concept]
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

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