SLC26A3 wt Allele

Preferred Label : SLC26A3 wt Allele;

NCIt synonyms : DRA; CLD; Solute Carrier Family 26, Member 3 wt Allele;

NCIt definition : Human SLC26A3 wild-type allele is located within 7q31and is approximately 38 kb in length. This allele, which encodes chloride anion exchanger protein, plays a role in the mediation of electrolyte and fluid absorption. Defects in the SLC26A3 gene produce variant alleles that are the cause of congenital chloride diarrhea (CLD).;

GenBank Accession Number : NM_000111;

Details

Origin ID

C51091;

UMLS CUI

C1706048;

False automatic mappings
- Congenital lactase deficiency [ICD-11 Sub-sub category]
OMIM relation
- Solute carrier family 26, member 3 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_associated_with_disease
- Diarrhea [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 7q31 [NCIt concept]
gene_plays_role_in_process
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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