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SLC26A4 Gene Reports
SLC26A4
Genetics Home Reference
"The SLC26A4 gene provides instructions for making a protein called pendrin. This protein transports negatively charged particles across cell membranes. Pendrin is present in the kidneys, inner ear, and thyroid. The thyroid is a butterfly-shaped tissue at the base of the neck that releases hormones to help regulate growth and the rate of chemical reactions in the body.
"Although the exact function of pendrin is not fully understood, researchers have suggested particular roles for pendrin in various tissues. In the thyroid, pendrin probably transports negatively charged iodine atoms (iodide ions) out of cells. Iodide ions bind to a protein called thyroglobulin, which is an important step in the production of thyroid hormones. In the kidneys, pendrin probably helps regulate acidity by transporting negatively charged particles, called bicarbonate ions, into the urine. Pendrin's likely role in the inner ear is to help control the proper balance of charged particles. Maintaining the correct level of charged particles is important for supporting reactions that are critical to the hearing process and for determining the amount of fluid that bathes the inner ear. The fluid level appears to be particularly important during development of the inner ear, as it may influence the shape of the bony structures such as the cochlea and vestibular aqueduct. The cochlea is a snail-shaped structure that helps process sound. The vestibular aqueduct is a bony canal that connects the inner ear with a cavity in the brain."
SLC26A4
NCBI. OMIM
Descriptions of major research studies and findings, with links.
"Scott et al. (1999) concluded that pendrin functions as a transporter of chloride and iodide, but not of sulfate.... Bidart et al. (2000) studied pendrin expression and localization using real-time kinetic quantitative PCR and antipeptide antibodies, respectively, in normal, benign, and malignant human thyroid tissues. The results were then compared to those observed for sodium/iodide symporter (NIS) expression.... Scott et al. (2000) compared 3 common Pendred syndrome allele variants with 3 PDS mutations reported only in individuals with nonsyndromic hearing loss. The mutations associated with Pendred syndrome exhibited complete loss of pendrin-induced chloride and iodide transport, while alleles unique to patients with DFNB4 were able to transport both iodide and chloride, albeit at a much lower level than wildtype pendrin..... Taylor et al. (2002) investigated the effect of 9 SLC26A4 missense mutations on pendrin localization and iodide transport.... Yoshida et al. (2002) showed that pendrin is an iodide-specific transporter in mammalian cells and is responsible for iodide efflux in the thyroid...."
SLC26A4 solute carrier family 26, member 4 [ Homo sapiens ]
NCBI Entrez Gene
PDS; DFNB4. "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."
Technical descriptions, links, and references.
SLC26A4
Gene Cards
DFNB4. EVA. NSRD4. PDS. Pendrin. Sodium-independent chloride/iodide transporter. Technical descriptions and links.
SLC26A4
SOURCE. Gene Reports.
Technical description and links.
SLC26A4
MGI (Mouse Genome Informatics)
Technical information and links.
SLC26A4
Genatlas: Gene Database
Technical information and links.
SLC26A4
iHOP (Information Hyperlinked Over Proteins)
Definitions and links.