NP_476517.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
barttin
NCBI Official Synonym Full Names
barttin CLCNK-type chloride channel accessory beta subunit
NCBI Official Synonym Symbols
NCBI Protein Information
barttin
UniProt Protein Name
Barttin
UniProt Synonym Gene Names
UniProt Entry Name
BSND_HUMAN
NCBI Summary for BSND
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]
UniProt Comments for BSND
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: Transporter; Membrane protein, multi-pass; Transporter, ion channel; Membrane protein, integral
Chromosomal Location of Human Ortholog: 1p32.1
Cellular Component: protein complex; integral to plasma membrane; basolateral plasma membrane; cytoplasm; plasma membrane
Molecular Function: chloride channel activity; chloride channel regulator activity
Biological Process: transmembrane transport
Disease: Bartter Syndrome, Type 4a
Product References and Citations for anti-BSND antibody
Riazuddin, S., et al. Am. J. Hum. Genet. 85(2):273-280(2009) Brochard, K., et al. Nephrol. Dial. Transplant. 24(5):1455-1464(2009) Bircan, Z., et al. Pediatr. Nephrol. 24(4):841-844(2009) Kathiresan, S., et al. Nat. Genet. 41(3):334-341(2009) Kathiresan, S., et al. Nat. Genet. 41(1):56-65(2009)
Research Articles on BSND
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Products associated with anti-BSND antibody
Diseases associated with anti-BSND antibody
Organs/Tissues associated with anti-BSND antibody
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