S26A4 Polyclonal Antibody

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.,