产品名称
S26A4 Rabbit Polyclonal Antibody
蛋白名称
Pendrin (Sodium-independent chloride/iodide transporter) (Solute carrier family 26 member 4)
存储缓冲液
Liquid in PBS containing 50% glycerol, and 0.02% New type preservative N.
Human Swissprot No.
O43511
Human Swissprot Link
https://www.uniprot.org/uniprotkb/O43511/entry
Mouse Swissprot No.
Q9R155
Mouse Swissprot Link
http://www.uniprot.org/uniprot/Q9R155
Rat Swissprot Link
http://www.uniprot.org/uniprot/O54941Q9R154
免疫原
Synthesized peptide derived from part region of human protein
特异性
S26A4 Polyclonal Antibody detects endogenous levels of protein.
稀释度
WB 1:500-2000 ELISA 1:5000-20000
宿主
Polyclonal, Rabbit,IgG
背景介绍
Mutations in this gene are associated with Pendred syndrome, the most common form of syndromic deafness, an autosomal-recessive disease. It is highly homologous to the SLC26A3 gene; they have similar genomic structures and this gene is located 3' of the SLC26A3 gene. The encoded protein has homology to sulfate transporters. [provided by RefSeq, Jul 2008],
组织表达
High expression in adult thyroid, lower expression in adult and fetal kidney and fetal brain. Not expressed in other tissues.
细胞定位
Membrane ; Multi-pass membrane protein . Cell membrane; Multi-pass membrane protein. Localizes to the apical brush border of cells in the cortical collecting ducts of the kidney. .
功能
disease:Defects in SLC26A4 are a cause of Pendred syndrome (PDS) [MIM:274600]. PDS is an autosomal recessive disorder characterized by congenital sensorineural hearing loss combined with thyroid goiter. The disorder may account for up to 10% of the cases of hereditary deafness. The deafness is most often associated with a Mondini cochlear defect.,disease:Defects in SLC26A4 are the cause of non-syndromic sensorineural deafness autosomal recessive type 4 (DFNB4) [MIM:600791]; also known as vestibular aqueduct syndrome (EVA). DFNB4 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB4 is associated with an enlarged vestibular aqueduct.,function:Sodium-independent transporter of chloride and iodide.,online information:Gene page,online information:Pendrin entry,online information:The Singapore human mutation and polymorphism database,similarity:Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.,similarity:Contains 1 STAS domain.,tissue specificity:High expression in adult thyroid, lower expression in adult and fetal kidney and fetal brain. Not expressed in other tissues.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
