Barttin (BART) ELISA Kit for Human

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. [provided by RefSeq, Jul 2008]

BSND: Functions as a beta-subunit for CLCNKA and CLCNKB chloride channels. In the kidney CLCNK/BSND heteromers mediate chloride reabsorption by facilitating its basolateral efflux. In the stria, CLCNK/BSND channels drive potassium secretion by recycling chloride for the basolateral SLC12A2 cotransporter. Defects in BSND are the cause of Bartter syndrome type 4A (BS4A); also known as infantile Bartter syndrome with sensorineural deafness. BS refers to a group of autosomal recessive disorders characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BS4A is associated with sensorineural deafness.

Protein type: Membrane protein, integral; Transporter; Transporter, ion channel; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 1p32.1

Cellular Component: protein complex; basolateral plasma membrane; integral to plasma membrane; cytoplasm; plasma membrane

Molecular Function: chloride channel activity; chloride channel regulator activity

Biological Process: transmembrane transport

Disease: Bartter Syndrome, Type 4a