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BSND
| Symbol: | BSND | | Name(s): | Bartter syndrome, infantile, with sensorineural deafness (Barttin) | | Type: | protein-coding | | Organism: | Homo sapiens | | Synonyms: | BART, MGC119283, MGC119284, MGC119285 | | Links: |
Pubmed,
Entrez Gene,
GeneCards,
BioGPS,
Map Viewer.
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Gene Information from Publications |
| Publication Link |
Summary of findings |
| 17510212 |
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) |
| 17652939 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 17954364 |
Observational study of genotype prevalence and gene-disease association. (HuGE Navigator) |
| 18094726 |
Disruption of the gene encoding Barttin, BSND, results in a 'double knockout' of the functions of both ClCKA and ClCKB, manifesting as Bartter syndrome type IV with sensorineural deafness and an especially severe salt-losing phenotype. |
| 17954364 |
BSND-V43I, a common variant conferring partial loss of function, exhibits significant deviation from equilibrium in the Ghanaian normotensive control population |
| 16773427 |
Barttin mutations is associated with antenatal Bartter syndrome with sensorineural deafness |
| 12761627 |
The mislocalization of CLC-K2 was identified as the molecular pathogenesis of Bartter syndrome by mutant barttins. |
| 15496163 |
ClC-Ka/barttin channels are regulated by SGK1 and SGK3, which may thus participate in the regulation of transport in kidney and inner ear. |
| 16849430 |
Barttin modulates trafficking and function of ClC-K1 and ClC-Kb channels |
| 16572343 |
A missense, point mutation on gene BSND exon 1, affects the function of the CLC-K/barttin chloride channel and caused Bartter syndrome with sensorineural deafness in two families from Spain. | →View more information from publications. |
Recent Publications on BSND: |  |
Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome.
BSND encodes barttin, an accessory subunit of renal and inner ear chloride... | 24th September, 2009
| Section on Human Genetics, Laboratory of Molecular Genetics, National
| Am J Hum Genet. 2009 Aug;85(2):273-80. Epub 2009 Jul 30.
DOI Direct Link |
Chloride channelopathies.
Channelopathies, defined as diseases that are caused by mutations in genes... | 11th September, 2009
| Centro de Investigacion Principe Felipe, Valencia, Spain.
| Biochim Biophys Acta. 2009 Mar;1792(3):173-89.
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Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome.
BACKGROUND: Ante/neonatal Bartter syndrome (BS) is a hereditary... | 4th August, 2009
| Hopitaux de Toulouse, Universite Paul Sabathier, Departement de Pediatrie,
| Nephrol Dial Transplant. 2009 May;24(5):1455-64. Epub 2008 Dec 18.
DOI Direct Link |
Deletion of exons 2-4 in the BSND gene causes severe antenatal Bartter syndrome.
BSND gene mutations usually cause severe forms of antenatal Bartter... | 6th June, 2009
| Department of Pediatric Nephrology, Kocaeli University Hospital, 41380
| Pediatr Nephrol. 2009 Apr;24(4):841-4. Epub 2008 Oct 9.
DOI Direct Link |
How much is blood pressure in the general population determined by rare mutations in renal salt-transporting proteins?
Rare mutations in genes affecting renal salt handling cause various... | 1st April, 2009
| Institute of Physiology and Zurich Center for Integrative Human
| J Nephrol. 2008 Sep-Oct;21(5):632-4.
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→View more research publications. |
BSND results (if any) from reagent suppliers | 
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BSND antibodies: Neuroscience > Sensory System > Auditory system ...
BSND antibodies. ... BSND antibodies. Code. Name. Applications (see key) & Reactivity (see key). Image Abreview Publication. ab67648 · BSND antibody ...
http://www.abcam.com/index.html?t=257643&pt=1&c=3335&ei=&mu=...
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Barttin (D-20) Antibody sc-49607
Species, Gene Name, Gene ID, Chromosome Location, Isoform (mRNA) Accession #, Protein Accession #, OMIM™ Number. Human, BSND, 7809, 1p32.3, NM_057176 ...
http://www.scbt.com/datasheet-49607-barttin-d-20-antibody.ht...
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Abcam antibodies and reagents product map
ATP6V0A4 antibodies (1) · BCS1L antibodies (1) · BSND antibodies (1) · CHRNA10 antibodies (1) · CLRN1 antibodies (2) · CNTN5 antibodies (3) ...
http://www.abcam.com/index.html?cl=248&pageconfig=productmap...
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Barttin (S-20) Antibody sc-49611
Humano, BSND, 7809, 1p32.3, NM_057176 · Q8WZ55 · 606412. camundongo, Bsnd, 140475, 4 C7, Q8VIM4, N/A. Informacoes sobre ordens ...
http://www.scbt.com/pt/datasheet-49611-barttin-s-20-antibody...
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Abcam antibodies and reagents product map
... Aquaporin 9 antibodies (4) · Aquaporin 9 proteins and peptides (2) · BEST4 antibodies (1) · BSND antibodies (1) · Bestrophin 2 antibodies (1) ...
http://www.abcam.com/index.html?cl=2105&pageconfig=productma...
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Barttin (S-20) Antibody sc-49611
Spezies, Gen, Gen ID, Chromosomaler Locus, mRNA (Isoform) Accession #, Protein Accession #, OMIM™ Nummer. Human, BSND, 7809, 1p32.3, NM_057176 · Q8WZ55 ...
http://www.scbt.com/de/datasheet-49611-barttin-s-20-antibody...
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Barttin (G-19) Antibody sc-49609
Species, Nome del gene, Codice del gene, Locus cromosoma, Isoform (mRNA) Accession #, codice accesso proteina, Numero d' ordine. Human, BSND, 7809, 1p32.
3 ...
http://www.scbt.com/it/datasheet-49609-barttin-g-19-antibody...
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