SLC26A4

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]

Full Name

solute carrier family 26, member 4

Function

Sodium-independent transporter of chloride and iodide.

Biological Process

Biological Process inorganic anion transportManual Assertion Based On ExperimentTAS:ProtInc
Biological Process ion transportTAS:Reactome
Biological Process regulation of pHISS:UniProtKB
Biological Process regulation of protein localizationISS:UniProtKB
Biological Process sensory perception of soundManual Assertion Based On ExperimentTAS:ProtInc
Biological Process sulfate transportManual Assertion Based On ExperimentTAS:ProtInc

Cellular Location

Membrane
Cell membrane
Localizes to the apical brush border of cells in the cortical collecting ducts of the kidney.

Involvement in disease

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.
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.