Pendrin (SLC26A4) ELISA Kit for Human

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]

SLC26A4: Sodium-independent transporter of chloride and iodide. Defects in SLC26A4 are a cause of Pendred syndrome (PDS). 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. Defects in SLC26A4 are the cause of deafness autosomal recessive type 4 (DFNB4); 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. Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.

Protein type: Transporter; Transporter, SLC family; Membrane protein, multi-pass; Membrane protein, integral

Chromosomal Location of Human Ortholog: 7q31

Cellular Component: apical plasma membrane; brush border membrane; integral to membrane; integral to plasma membrane; plasma membrane

Molecular Function: anion:anion antiporter activity; bicarbonate transmembrane transporter activity; chloride channel activity; chloride transmembrane transporter activity; iodide transmembrane transporter activity; oxalate transmembrane transporter activity; secondary active sulfate transmembrane transporter activity; sulfate transmembrane transporter activity

Biological Process: bicarbonate transport; chloride transport; inorganic anion transport; iodide transport; ion transport; oxalate transport; regulation of intracellular pH; regulation of membrane potential; regulation of pH; regulation of protein localization; sensory perception of sound; sulfate transport; transmembrane transport

Disease: Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct; Pendred Syndrome