| Name | Bartter syndrome, infantile, with sensorineural deafness (Barttin) |
| Symbol | BSND |
| Aliases | BART; barttin |
| Gene Product | |
| Category | |
| UniGene |
Hs.151291
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| Reference Sequence |
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| OMIM and SNP |
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| Locus |
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| 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. |
| Expression | |
| SAGE (785236 tags, 15 libraries) |
| Tissue | Breadth ? |
CPM ? |
| brain |  | | | colon | | | | mammary gland | | | | ovary | | | | pancreas | | | | skin | | | | stomach | | | | uncharacterized tissue | | | | vascular | | |
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| Evidence | Mutation in System Syndrom with Kidney Involvment
- Birkenhager R, Otto E, Schurmann MJ, Vollmer M, Ruf EM, Maier-Lutz I, Beekmann F, Fekete A, Omran H, Feldmann D, Milford DV, Jeck N, Konrad M, Landau D, Knoers NV, Antignac C, Sudbrak R, Kispert A, Hildebrandt F Mutation of BSND causes Bartter syndrome with sensorineural deafness andkidney failure. Nat Genet 2001 Nov;29(3):310-4.
Other key publications related to this gene
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