SLC26A4
Function
Sodium-independent transporter of chloride and iodide (PubMed:10192399, PubMed:11932316, PubMed:12107249, PubMed:16684826, PubMed:24051746). Mediates electroneutral chloride-bicarbonate, chloride-iodide and chloride-formate exchange with 1:1 stoichiometry (PubMed:10644529, PubMed:15155570, PubMed:24051746, PubMed:35601831). Mediates electroneutral iodide-bicarbonate exchange (By similarity).
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.
None
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.
Tissue Specificity
Highly expressed in the kidney (at protein level) (PubMed:11274445). High expression in adult thyroid, lower expression in adult and fetal kidney and fetal brain. Not expressed in other tissues (PubMed:9398842).
Cellular localization
- Cell membrane
- Multi-pass membrane protein
- Apical cell membrane
- Multi-pass membrane protein
Alternative names
PDS, SLC26A4, Pendrin, Sodium-independent chloride/iodide transporter, Solute carrier family 26 member 4