Barttin
From Anvita Health Wiki
Contents |
Function
- beta-subunit for CLCNKA & CLCNKB Cl- channels
- in kidney, CLCNK/BSND heteromers mediate Cl- reabsorption by facilitating its basolateral efflux
- in stria vascularis of inner ear, CLCNK/BSND channels drive K+ secretion by recycling Cl- for basolateral SLC12A2 cotransporter
- interacts with CLCNK channel
- forms heteromers with CLCNKA in the thin ascending limb of the loop of Henle & with CLCNKB in the thick ascending limb & more distal segments
Compartment
Alternative-splicing
- named isoforms=2
Expression
- expressed primarily in kidney
- expressed in specific nephron segments & in stria vascularis of inner ear
Pathology
- defects in BSND are the cause of antenatal Bartter syndrome type 4
More General Terms
Internet Database
OMIM: 602522
OMIM: 606412
UniProt: [1]
References
UniProt [2]
