BSND
Identifiers
AliasesBSND, BART, DFNB73, barttin CLCNK type accessory beta subunit, barttin CLCNK type accessory subunit beta
External IDsOMIM: 606412 MGI: 2153465 HomoloGene: 14291 GeneCards: BSND
Orthologs
SpeciesHumanMouse
Entrez

7809

140475

Ensembl

ENSG00000162399

ENSMUSG00000025418

UniProt

Q8WZ55

Q8VIM4

RefSeq (mRNA)

NM_057176

NM_080458

RefSeq (protein)

NP_476517

NP_536706

Location (UCSC)Chr 1: 55 – 55.02 MbChr 4: 106.34 – 106.35 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Bartter syndrome, infantile, with sensorineural deafness (Barttin), also known as BSND, is a human gene which is associated with Bartter syndrome.[5]

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.[5]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000162399 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000025418 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 1 2 "BSND barttin CLCNK type accessory subunit beta [ Homo sapiens (human) ]".

Further reading


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