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- Table of Contents
Facts about Barttin.
Functions as a beta-subunit for CLCNKA and CLCNKB chloride channels.
From the kidney CLCNK/BSND heteromers mediate chloride reabsorption by facilitating its basolateral efflux.From the stria, CLCNK/BSND stations drive potassium secretion by recycling chloride for the basolateral SLC12A2 cotransporter. .
Human | |
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Gene Name: | BSND |
Uniprot: | Q8WZ55 |
Entrez: | 7809 |
Belongs to: |
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No superfamily |
BARTMGC119284; Bartter syndrome, infantile, with sensorineural deafness (Barttin); barttin; deafness, autosomal recessive 73; DFNB73; MGC119283; MGC119285
Mass (kDA):
35.197 kDA
Human | |
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Location: | 1p32.3 |
Sequence: | 1; NC_000001.11 (54998933..55017172) |
Expressed primarily in kidney. Expressed in specific nephron segments and in the stria vascularis of the inner ear.
Cell membrane; Multi-pass membrane protein. Cytoplasm. A significant amount also observed intracellularly. Staining in membranes of the renal tubule and of potassium-secreting epithelia of the inner ear is basolateral (By similarity).
PMID: 11687798 by Birkenhaeger R., et al. Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.
PMID: 11734858 by Estevez R., et al. Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion.