-
Bartter syndrome, infantile, with
sensorineural deafness (
Barttin), also
known as BSND, is a
human gene
which is ****ociated with
Bartter syndrome. This...
- sequence) and are both
expressed in
mammalian kidney.
Chloride channel BSND,
barttin,
accessory subunit beta for this
channel GRCh38:
Ensembl release 89: ENSG00000184908...
- CLCN2, CLCN3, CLCN4, CLCN5, CLCN6, CLCN7, CLCNKA,
CLCNKB BSND -
encodes barttin,
accessory subunit beta for
CLCNKA and
CLCNKB Members of
Epithelial Chloride...
- AR [241200] C1C-Kb (type 3, classic) 1p36 AR [607364] 1p31 AR [602522]
Barttin (type 4)
Hypomagnesemic hypercalciuric nephrocalcinosis (magnesium-losing...
-
predicted to have 12
transmembrane domains, and
requires a beta
subunit called barttin to form a
functional channel. It is
thought to
function in salt reabsorption...
-
Devlin LA,
Silbermann F, et al. (January 2020). "Mouse
genetics reveals Barttin as a
genetic modifier of
Joubert syndrome".
Proceedings of the National...