Target:S26A4
Fields:Thyroid hormone synthesis
Gene Name:SLC26A4 PDS
Protein Name:Pendrin (Sodium-independent chloride/iodide transporter) (Solute carrier family 26 member 4)
Human Gene Id:5172
Human Swiss Prot No:O43511
Mouse Swiss Prot No:Q9R155
Rat Swiss Prot No:Q9R154
Immunogen:Synthesized peptide derived from part region of human protein
Specificity:S26A4 Polyclonal Antibody detects endogenous levels of protein.
Formulation:Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
Source:Polyclonal, Rabbit,IgG
Dilution:WB 1:500-2000 ELISA 1:5000-20000
Purification:The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Concentration:1 mg/ml
Storage Stability:-15°C to -25°C/1 year(Do not lower than -25°C)
Observed Band(KD):85kD
Background: 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],
Function: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 pa
Subcellular Location: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. .
Expression:High expression in adult thyroid, lower expression in adult and fetal kidney and fetal brain. Not expressed in other tissues.