Human solute carrier family 26, member 4 ELISA Kit | SLC26A4 elisa kit
Human Pendrin, SLC26A4 ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
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: Membrane protein, multi-pass; Membrane protein, integral; Transporter, SLC family; Transporter
Chromosomal Location of Human Ortholog: 7q31
Cellular Component: brush border membrane; apical plasma membrane; integral to membrane
Molecular Function: iodide transmembrane transporter activity; chloride transmembrane transporter activity; sulfate transmembrane transporter activity; secondary active sulfate transmembrane transporter activity
Biological Process: sensory perception of sound; regulation of protein localization; iodide transport; inorganic anion transport; sulfate transport; regulation of pH
Disease: Pendred Syndrome; Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Research Articles on SLC26A4
Similar Products
Product Notes
The Human SLC26A4 slc26a4 (Catalog #AAA9319099) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9319099 ELISA Kit recognizes Human SLC26A4. It is sometimes possible for the material contained within the vial of "solute carrier family 26, member 4, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
If you are ready to order, navigate to Shopping Cart and get ready to checkout.
