BSND wt Allele

**Semantic type:** Gene or Genome

**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.

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