Bartter syndrome, infantile, with sensorineural deafness (Barttin), also known as BSND, is a human gene which is associated with Bartter syndrome.[5]
This gene encodes an essential beta subunit for CLC chloride channels. These heteromeric channels localize to basolateral membranes of renal tubules and of potassium-secreting epithelia of the inner ear. Mutations in this gene have been associated with Bartter syndrome with sensorineural deafness.[5]
Birkenhäger R, Otto E, Schürmann MJ, et al. (2001). "Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure". Nat. Genet. 29 (3): 310–4. doi:10.1038/ng752. PMID11687798. S2CID5892001.
Estévez R, Boettger T, Stein V, et al. (2001). "Barttin is a Cl− channel beta-subunit crucial for renal Cl− reabsorption and inner ear K+ secretion". Nature. 414 (6863): 558–61. Bibcode:2001Natur.414..558E. doi:10.1038/35107099. PMID11734858. S2CID4407807.
Waldegger S, Jeck N, Barth P, et al. (2003). "Barttin increases surface expression and changes current properties of ClC-K channels". Pflügers Arch. 444 (3): 411–8. doi:10.1007/s00424-002-0819-8. PMID12111250. S2CID8546107.
Hayama A, Rai T, Sasaki S, Uchida S (2004). "Molecular mechanisms of Bartter syndrome caused by mutations in the BSND gene". Histochem. Cell Biol. 119 (6): 485–93. doi:10.1007/s00418-003-0535-2. PMID12761627. S2CID24080298.