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| Cat.No | ACP14171 | Target Name | BSND |
|---|---|---|---|
| Form | Lyophilized powder | Expression System | Custom Production. Please inquire and provide the desire expression system. |
| Protein Length | Partial | Purity | >85% (SDS-PAGE) |
| Storage Buffer | 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, Liquid form: default storage buffer is Tris/PBS-based buffer, pH 8.0. |
| Target Species | Human | Uniprot ID | Q8WZ55 |
|---|
Uniprot Id
Q8WZ55
Target Species
Human
Target Name
BSND
Target Full Name
Barttin
Target 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.
Target Involvement
Bartter syndrome 4A, neonatal, with sensorineural deafness (BARTS4A)
Target Subcellular Location
Cell membrane; Multi-pass membrane protein. Cytoplasm.
Target Tissue Specificity
Expressed primarily in kidney. Expressed in specific nephron segments and in the stria vascularis of the inner ear.
Target Synonyms
BART ; Bartter syndrome infantile with sensorineural deafness; Bartter syndrome; infantile; with sensorineural deafness (Barttin); Barttin; Bsnd; BSND_HUMAN; deafness; autosomal recessive 73; DFNB 73; DFNB73
Target Background
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.
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