ITN2868
ITN2868
ITN2868
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- Catalog: ITN2868
- Gene/Protein: SLC26A4 PDS
- Product Description: Immunotag™ S26A4 Polyclonal Antibody
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Description
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Specifications
Antibody Specification Datasheet 
IMPORTANT NOTE This product is custom manufactured with a lead time of 3-4 weeks. Once in production, this item cannot be cancelled from an order and is not eligible for return. Target Protein S26A4 Clonality Polyclonal Storage/Stability -20°C/1 year Application WB,ELISA Recommended Dilution WB 1:500-2000 ELISA 1:5000-20000 Concentration 1 mg/ml Reactive Species Human Host Species Rabbit Immunogen Synthesized peptide derived from part region of human protein Specificity S26A4 Polyclonal Antibody detects endogenous levels of protein. Purification The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen Form Liquid in PBS containing 50% glycerol, and 0.02% sodium azide. Gene Name SLC26A4 PDS Accession No. O43511 Q9R155 Q9R154 Description solute carrier family 26 member 4(SLC26A4) Homo sapiens 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], Protein Expression Thyroid, Subcellular Localization plasma membrane,integral component of plasma membrane,integral component of membrane,apical plasma membrane,brush border membrane,extracellular exosome, Protein 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., Usage For Research Use Only! Not for diagnostic or therapeutic procedures. - Reviews
| Antibody Specification | |
| Datasheet | |
| IMPORTANT NOTE | This product is custom manufactured with a lead time of 3-4 weeks. Once in production, this item cannot be cancelled from an order and is not eligible for return. |
| Target Protein | S26A4 |
| Clonality | Polyclonal |
| Storage/Stability | -20°C/1 year |
| Application | WB,ELISA |
| Recommended Dilution | WB 1:500-2000 ELISA 1:5000-20000 |
| Concentration | 1 mg/ml |
| Reactive Species | Human |
| Host Species | Rabbit |
| Immunogen | Synthesized peptide derived from part region of human protein |
| Specificity | S26A4 Polyclonal Antibody detects endogenous levels of protein. |
| Purification | The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen |
| Form | Liquid in PBS containing 50% glycerol, and 0.02% sodium azide. |
| Gene Name | SLC26A4 PDS |
| Accession No. | O43511 Q9R155 Q9R154 |
| Description | solute carrier family 26 member 4(SLC26A4) Homo sapiens 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], |
| Protein Expression | Thyroid, |
| Subcellular Localization | plasma membrane,integral component of plasma membrane,integral component of membrane,apical plasma membrane,brush border membrane,extracellular exosome, |
| Protein 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., |
| Usage | For Research Use Only! Not for diagnostic or therapeutic procedures. |