BSND wt Allele

Preferred Label : BSND wt Allele;

NCIt synonyms : Bartter Syndrome, Infantile, With Sensorineural Deafness (Barttin) 2 Gene; DFNB73; Barttin CLCNK Type Accessory Beta Subunit wt Allele; Deafness, Autosomal Recessive 73 Gene; BART;

NCIt definition : Human BSND wild-type allele is located in the vicinity of 1p32.3 and is approximately 12 kb in length. This allele, which encodes Barttin protein, plays a role in the modulation of chloride transport. Mutation of the gene is associated with Bartter syndrome with sensorineural deafness.;

NCI Metathesaurus CUI : CL538402;

GenBank Accession Number : AY034632;

Details

Origin ID

C140243;

UMLS CUI

C4553347;

Automatic exact mappings (from CISMeF team)
- ADP ribosylation factor like GTPase 2 binding protein [ORDO Gene]
- Adp-ribosylation factor-like gtpase 2-binding protein [OMIM gene]
- barttin CLCNK type accessory subunit beta [ORDO Gene]
- warts [MeSH Descriptor]
OMIM relation
- Barttin clcnk-type accessory subunit beta [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1p32.3 [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) :

You can consult :

recommendations
documents concerning education
documents for patients