BSND

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BSND
Identifiers
Aliases BSND, BART, DFNB73, barttin CLCNK type accessory beta subunit
External IDs MGI: 2153465 HomoloGene: 14291 GeneCards: BSND
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_057176

NM_080458

RefSeq (protein)

NP_476517

NP_536706.2
NP_536706

Location (UCSC) Chr 1: 55 – 55.01 Mb Chr 4: 106.48 – 106.49 Mb
PubMed search [1] [2]
Wikidata
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Bartter syndrome, infantile, with sensorineural deafness (Barttin), also known as BSND, is a human gene which is associated with Bartter syndrome.[3]

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.[3]

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