SLC26A4 blocking peptide
SLC26A4 Blocking Peptide (C-Term)
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: Transporter, SLC family; Membrane protein, integral; Transporter; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 7q31
Cellular Component: apical plasma membrane; brush border membrane; integral to membrane; integral to plasma membrane; plasma membrane
Molecular Function: anion:anion antiporter activity; bicarbonate transmembrane transporter activity; chloride channel activity; chloride transmembrane transporter activity; iodide transmembrane transporter activity; oxalate transmembrane transporter activity; sulfate transmembrane transporter activity
Biological Process: bicarbonate transport; inorganic anion transport; ion transport; regulation of intracellular pH; regulation of membrane potential; regulation of pH; regulation of protein localization; sensory perception of sound; sulfate transport
Disease: Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct; Pendred Syndrome
Research Articles on SLC26A4
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Product Notes
The SLC26A4 slc26a4 (Catalog #AAA9230245) is a Blocking Peptide and is intended for research purposes only. The product is available for immediate purchase. It is sometimes possible for the material contained within the vial of "SLC26A4, Blocking Peptide" 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
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