Function
Sodium-independent transporter of chloride and iodide. Mediates electroneutral chloride-bicarbonate, chloride-iodide and chloride-formate exchange with 1:1 stoichiometry. Mediates electroneutral iodide-bicarbonate exchange.
Biological Context
Subcellular Location: Cell membrane (Multi-pass membrane protein); Apical cell membrane (Multi-pass membrane protein)
Tissue Specificity: Highly expressed in the kidney (at protein level). High expression in adult thyroid, lower expression in adult and fetal kidney and fetal brain. Not expressed in other tissues
Disease Association: Pendred syndrome (PDS) : An autosomal recessive disorder characterized by congenital sensorineural hearing loss in association 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. Deafness occurs early, starting at birth or during the first years of life. It is bilateral, sometimes asymmetrical, fluctuant and often progressive. Thyroid perturbations, such as thyroid goiter and/or hypothyroidism appear most commonly during adolescence, but they can be congenital or appear later. [The disease is caused by variants affecting the gene represented in this entry] | Deafness, autosomal recessive, 4 (DFNB4) : A form of non-syndromic 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. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Pendrin (SLC26A4)-VLPs Protein is a recombinant protein from Homo sapiens (Human), expressed in Mammalian cell, covering amino acids 1-780aa, with N-terminal 6xHis-tagged(This tag can be tested only under denaturing conditions) tag, molecular weight 86.7kDa. Suitable for ELISA and Western Blot applications. Explore more VLP Transmembrane proteins →
