Symbol: Name: ID: |
BSND Bartter syndrome, infantile, with sensorineural deafness (Barttin) GFS:5620 |
Gene name: | BSND |
Chromosome: | 1p32.3 |
Previous Symbols: | DFNB73 |
Previous Names: | deafness, autosomal recessive 73 |
Aliases: | BART |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:2153465 | Rat Genome Database ID: | RGD:621139 |
HGNC ID: | HGNC:16512 | RefSeq IDs: | NM_057176 |
Entrez Gene ID: | 7809 | Ensembl Gene ID: | ENSG00000162399 |
VEGA IDs: | OTTHUMG00000008112 | UniProt ID: | Q8WZ55 |
UCSC ID: | uc001cye.2 | OMIM ID: | 606412 |
Pubmed: | PMID11687798 PMID 11734858 PMID 19646679 | ||
CCDS IDs: | CCDSCCDS602.1 |
Bartter syndrome, infantile, with sensorineural deafness (Barttin), also known as BSND, is a human gene which is associated with Bartter syndrome.
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. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Function: Functions as a beta-subunit for CLCNKA and CLCNKB chloride channels. In the kidney CLCNK/BSND heteromers mediate chloride reabsorption by facilitating its basolateral efflux. In the stria, CLCNK/BSND channels drive potassium secretion by recycling chloride for the basolateral SLC12A2 cotransporter.
Products for BSND gene
Catalog | Product Name | Application | Company |
GFS:E05620 | Bartter syndrome, infantile, with sensorineural deafness (Barttin); ELISA kit | ELISA | n/a |
GFS:A05620 | Bartter syndrome, infantile, with sensorineural deafness (Barttin); Anti | ANTIBODIES | n/a |
GFS:P05620 | Bartter syndrome, infantile, with sensorineural deafness (Barttin); Protien | Protien | n/a |