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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