Gene Review:
Bsnd - Bartter syndrome, infantile, with...
Mus musculus
Synonyms:
Barttin
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Disease relevance of Bsnd
- The gene encoding the integral membrane protein barttin is mutated in a form of Bartter's syndrome that is associated with congenital deafness and renal failure [1].
High impact information on Bsnd
- This work describes the first known beta-subunit for CLC chloride channels and reveals that heteromers formed by ClC-K and barttin are crucial for renal salt reabsorption and potassium recycling in the inner ear [1].
Anatomical context of Bsnd
- Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion [1].
Associations of Bsnd with chemical compounds
- Here we show that barttin acts as an essential beta-subunit for ClC-Ka and ClC-Kb chloride channels, with which it colocalizes in basolateral membranes of renal tubules and of potassium-secreting epithelia of the inner ear [1].
References
- Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion. Estévez, R., Boettger, T., Stein, V., Birkenhäger, R., Otto, E., Hildebrandt, F., Jentsch, T.J. Nature (2001) [Pubmed]
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