background:
This gene belongs to the solute carrier 26 family, whose members encode anion transporter proteins. This particular family member encodes a protein involved in transporting chloride, oxalate, sulfate and bicarbonate. Several alternatively spliced transcript variants of this gene, encoding distinct isoforms, have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008].
Function:
Sodium-independent transporter of chloride and iodide.
Subcellular Location:
Membrane; Multi-pass membrane protein.
Tissue Specificity:
High expression in adult thyroid, lower expression in adult and fetal kidney and fetal brain. Not expressed in other tissues.
DISEASE:
Defects in SLC26A4 are the cause of 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.
Similarity:
Belongs to the SLC26A/SulP transporter (TC 2.A.53) family. Contains 1 STAS domain.
Database links:
UniProtKB/Swiss-Prot: O43511.1
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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