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Gene ID: 7809 | BSND Antibody Resource


BSND Antibody Resource
Gene Full Name: 
Bartter syndrome, infantile, with sensorineural deafness (Barttin)
Uniprot: 
Q8WZ55
Protein Name: 
barttin
Nucleotide: 
NM_057176
Alias: 
BART;DFNB73;
Ensembl: 
Location: 
1p32.1
HPRD: 
05914
NCBI Gene: 
7809
MIM: 
606412

Summary: 
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]
Function: 
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.
Subcellular location: 
Cell membrane; Multi-pass membrane protein. Cytoplasm. Note: A significant amount also observed intracellularly. Staining in membranes of the renal tubule and of potassium-secreting epithelia of the inner ear is basolateral .
PTM: 
Disease: 
Bartter syndrome 4A (BS4A) [MIM:602522]: An autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. Bartter syndrome type 4 is associated with sensorineural deafness. Note: The disease is caused by mutations affecting the gene represented in this entry.
Biotechnological use: 

Antibodies
TypeCatalogNameClonalitySpecies ReactivityApplicationSizePriceMore Info
Polyclonal Antibody ARP59578_P050 BSND antibody - middle region (ARP59578_P050) Polyclonal Human WB 50ug $289 Details
Polyclonal Antibody OAAB06458 BSND antibody - C-terminal region (OAAB06458) Human; Mouse WB, IHC 400ul $289 Details
Polyclonal Antibody ARP59579_P050 BSND Antibody (ARP59579_P050) Polyclonal Human, Pig Not tested 50 ug $125 Details

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Product Images
BSND antibody - middle region (ARP59578_P050) in Human Heart cells using Western Blot

Sample Type: Human Heart

BSND antibody - C-terminal region (OAAB06458) in Mouse Kidney cells using Immunohistochemistry

Sample Type: Mouse Kidney

BSND antibody - C-terminal region (OAAB06458) in Mouse Liver cells using Western Blot

Sample Type: Mouse Liver


BSND Protocols

Publications
Related Gene Trend Categories

Species
CatalogPredicted Species & TargetTarget ReferencePredicted Homology
ARP59578 Chimpanzee BSND antibody; Pan troglodytes BSND antibody H2PZ43 100.0%
ARP59579 Chimpanzee BSND antibody; Pan troglodytes BSND antibody H2PZ43 100.0%
ARP59578 Human BSND antibody; Homo sapiens BSND antibody Q5VU50 100.0%
ARP59579 Human BSND antibody; Homo sapiens BSND antibody Q5VU50 100.0%
ARP59578 Human BSND antibody; Homo sapiens BSND antibody Q8WZ55 100.0%
ARP59579 Human BSND antibody; Homo sapiens BSND antibody Q8WZ55 100.0%
ARP59578 Rhesus macaque BSND antibody; Macaca mulatta BSND antibody F6TPY5 79.0%
ARP59579 Rhesus macaque BSND antibody; Macaca mulatta BSND antibody F6TPY5 79.0%
ARP59578 Sumatran orangutan BSND antibody; Pongo abelii BSND antibody H2P0Q9 100.0%
ARP59579 Sumatran orangutan BSND antibody; Pongo abelii BSND antibody H2P0Q9 100.0%
ARP59579 White-tufted-ear marmoset BSND antibody; Callithrix jacchus BSND antibody F6WPI0 100.0%
ARP59578 White-tufted-ear marmoset BSND antibody; Callithrix jacchus BSND antibody F6WPI0 86.0%

Tissue & Cell Line Gene Expression Data