BSND

Barttin CLCNK-type chloride channel accessory beta subunit
Identifiers
SymbolsBSND ; BART; DFNB73
External IDsOMIM: 606412 MGI: 2153465 HomoloGene: 14291 GeneCards: BSND Gene
Orthologs
SpeciesHumanMouse
Entrez7809140475
EnsemblENSG00000162399ENSMUSG00000025418
UniProtQ8WZ55Q8VIM4
RefSeq (mRNA)NM_057176NM_080458
RefSeq (protein)NP_476517NP_536706
Location (UCSC)Chr 1:
55.46 – 55.48 Mb
Chr 4:
106.48 – 106.49 Mb
PubMed search

Bartter syndrome, infantile, with sensorineural deafness (Barttin), also known as BSND, is a human gene which is associated with Bartter syndrome.[1]

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.[1]

References

Further reading