Price range: $268.00 through $328.00
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],
| Size | 50μL/100μL |
| Target | S26A4 |
| Reactivity | Human, Mouse, Rat |
| Applications | WB, ELISA |
| MW(Calculated) | |
| MW(Observed) | 85kD |
| Host Species | Rabbit |
| Isotype | IgG |
| Conjugate/Modification | Unmodified |
| Recommended Dilution Ratio | WB 1:500-2000; ELISA 1:5000-20000 |
| Formulation | Liquid in PBS containing 50% glycerol,0.5% BSA and 0.02% sodium azide. |
| Purification | The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen. |
| Storage | -15°C to -25°C/1 year(Do not lower than -25°C) |
| Concentration | 1 mg/ml |
| Clonality | Polyclonal |
| Clone Number | |
| Immunogen | Synthesized peptide derived from part region of human protein |
| Specificity | S26A4 Polyclonal Antibody detects endogenous levels of protein. |
| Gene Name | SLC26A4 PDS |
| Protein Name | Pendrin (Sodium-independent chloride/iodide transporter) (Solute carrier family 26 member 4) |
| Other Name | |
| Species | Human |
| Gene ID | 5172 |
| Uniprot | O43511, |
| Species.1 | Mouse |
| Gene ID.1 | |
| Uniprot.1 | Q9R155, |
| Species.2 | Rat |
| Gene ID.2 | |
| Uniprot.2 | Q9R154 |
| Cellular Localization | 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. . |
| Tissue Expression | High expression in adult thyroid, lower expression in adult and fetal kidney and fetal brain. Not expressed in other tissues. |
| Signaling_pathway | |
| Research Areas | >>Thyroid hormone synthesis |
| 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 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., |
