BSND explained

Bartter syndrome, infantile, with sensorineural deafness (Barttin), also known as BSND, is a human gene which is associated with Bartter syndrome.^[1]

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.

Further reading

• Birkenhäger R, Otto E, Schürmann MJ . Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. . Nat. Genet. . 29 . 3 . 310–4 . 2001 . 11687798 . 10.1038/ng752 . 5892001 . etal.
• Estévez R, Boettger T, Stein V . Barttin is a Cl⁻ channel beta-subunit crucial for renal Cl⁻ reabsorption and inner ear K⁺ secretion. . Nature . 414 . 6863 . 558–61 . 2001 . 11734858 . 10.1038/35107099 . 2001Natur.414..558E . 4407807 . etal.
• Waldegger S, Jeck N, Barth P . Barttin increases surface expression and changes current properties of ClC-K channels. . Pflügers Arch. . 444 . 3 . 411–8 . 2003 . 12111250 . 10.1007/s00424-002-0819-8 . 8546107 . etal.
• Strausberg RL, Feingold EA, Grouse LH . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . etal. free .
• Miyamura N, Matsumoto K, Taguchi T . Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the beta-subunit for ClC-Ka and ClC-Kb chloride channels, barttin. . J. Clin. Endocrinol. Metab. . 88 . 2 . 781–6 . 2003 . 12574213 . 10.1210/jc.2002-021398 . etal. 28041186 .
• Hayama A, Rai T, Sasaki S, Uchida S . Molecular mechanisms of Bartter syndrome caused by mutations in the BSND gene. . Histochem. Cell Biol. . 119 . 6 . 485–93 . 2004 . 12761627 . 10.1007/s00418-003-0535-2 . 24080298 .
• Gerhard DS, Wagner L, Feingold EA . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . etal.
• Embark HM, Böhmer C, Palmada M . Regulation of CLC-Ka/barttin by the ubiquitin ligase Nedd4-2 and the serum- and glucocorticoid-dependent kinases. . Kidney Int. . 66 . 5 . 1918–25 . 2005 . 15496163 . 10.1111/j.1523-1755.2004.00966.x . etal. free .
• García-Nieto V, Flores C, Luis-Yanes MI . Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families. . Pediatr. Nephrol. . 21 . 5 . 643–8 . 2006 . 16572343 . 10.1007/s00467-006-0062-1 . 24786634 . etal.
• Ozlu F, Yapicioğlu H, Satar M . Barttin mutations in antenatal Bartter syndrome with sensorineural deafness. . Pediatr. Nephrol. . 21 . 7 . 1056–7 . 2006 . 16773427 . 10.1007/s00467-006-0108-4 . 13158377 . etal.
• Scholl U, Hebeisen S, Janssen AG . Barttin modulates trafficking and function of ClC-K channels. . Proc. Natl. Acad. Sci. U.S.A. . 103 . 30 . 11411–6 . 2006 . 16849430 . 10.1073/pnas.0601631103 . 1544099 . 2006PNAS..10311411S . etal. free .

Notes and References

1. Web site: BSND barttin CLCNK type accessory subunit beta [Homo sapiens (human) ]].