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.

2024年12月24日 · BSND (Barttin CLCNK Type Accessory Subunit Beta) is a Protein Coding gene. Diseases associated with BSND include Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness and Bartter Syndrome Type 4. Among its related pathways are Ion channel transport and Transport of inorganic cations/anions and amino acids/oligopeptides.

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The BSND gene provides instructions for making a protein called barttin. This protein is found primarily in the kidneys, where it attaches (binds) to two specific chloride channels: ClC-Ka (produced from the CLCNKA gene) and ClC-Kb (produced from the CLCNKB gene).

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2009年10月15日 · The human BSND cDNA consists of 1,596 basepairs and encodes a protein, designated barttin, that contains 2 putative transmembrane alpha helices. There is 70% amino acid sequence identity between human and mouse barttin.

BSND encodes a protein expressed in cells of the inner ear that maintain endocochlear potential. The function of DSPP is unknown, although its pattern of expression in teeth and the inner ear is intriguing and warrants further study.

Regulatory subunit of anion-selective CLCNKA:BSND and CLCNKB:BSND heteromeric channels involved in basolateral chloride conductance along the nephron to achieve urine concentration and maintain systemic acid-base homeostasis, and in the stria vascularis of the inner ear to establish the endocochlear potential necessary for normal hearing ...

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