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BSND barttin CLCNK type accessory beta subunit

Also known as: BART; DFNB73

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]

Associated conditions

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DescriptionTests
Bartter syndrome type 4
MedGen: C1865270OMIM: 602522GeneReviews: Not available
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Genomic context

Location:
1p32.3
Sequence:
Chromosome: 1; NC_000001.11 (54998944..55008792)
Total number of exons:
4

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