catalog number :
MBS9215961
products full name :
SLC26A4 Antibody (C-Term)
products short name :
[SLC26A4]
products name syn :
[Purified Rabbit Polyclonal Antibody (Pab); Pendrin; Sodium-independent chloride/iodide transporter; Solute carrier family 26 member 4; SLC26A4; PDS]
other names :
[pendrin; Pendrin; pendrin; solute carrier family 26 (anion exchanger), member 4; Sodium-independent chloride/iodide transporter; Solute carrier family 26 member 4]
products gene name :
[SLC26A4]
other gene names :
[SLC26A4; SLC26A4; EVA; PDS; DFNB4; TDH2B; PDS]
uniprot entry name :
S26A4_HUMAN
specificity :
This SLC26A4 antibody is generated from a rabbit immunized with a KLH conjugated synthetic peptide between 553-587 amino acids from human SLC26A4.
form :
Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification.
storage stability :
Maintain refrigerated at 2-8 degree C for up to 2 weeks. For long term storage store at -20 degree C in small aliquots to prevent freeze-thaw cycles.
tested application :
Western Blot (WB), ELISA
image1 heading :
Western Blot (WB)
other info1 :
Function: Sodium-independent transporter of chloride and iodide. Cellular Location: Membrane; Multi-pass membrane protein.
Cell membrane; Multi-pass membrane protein. Note=Localizes to the apical brush border of cells in the cortical collecting ducts of the kidney. Tissue Location: High expression in adult thyroid, lower expression in adult and fetal kidney and fetal brain. Not expressed in other tissues
products categories :
Metabolism; Neuroscience; Signal Transduction
products description :
Sodium-independent transporter of chloride and iodide.
products references :
Everett L.A.,et al.Nat. Genet. 17:411-422(1997).
Ota T.,et al.Nat. Genet. 36:40-45(2004).
Hillier L.W.,et al.Nature 424:157-164(2003).
Scott D.A.,et al.Nat. Genet. 21:440-443(1999).
van Hauwe P.,et al.Hum. Mol. Genet. 7:1099-1104(1998).
ncbi acc num :
NP_000432.1
ncbi gb acc num :
NM_000441.1
ncbi pathways :
Multifunctional Anion Exchangers Pathway (1269913); SLC-mediated Transmembrane Transport Pathway (1269907); Thyroid Hormone Synthesis Pathway (835410); Thyroid Hormone Synthesis Pathway (839541); Transmembrane Transport Of Small Molecules Pathway (1269903); Transport Of Inorganic Cations/anions And Amino Acids/oligopeptides Pathway (1269908)
ncbi summary :
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 summary :
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; integral to plasma membrane; apical plasma membrane; integral to membrane. Molecular Function: iodide transmembrane transporter activity; bicarbonate transmembrane transporter activity; chloride channel activity; chloride transmembrane transporter activity; sulfate transmembrane transporter activity; anion:anion antiporter activity; oxalate transmembrane transporter activity; secondary active sulfate transmembrane transporter activity. Biological Process: regulation of membrane potential; regulation of protein localization; sensory perception of sound; bicarbonate transport; inorganic anion transport; iodide transport; regulation of intracellular pH; regulation of pH; sulfate transport; oxalate transport. Disease: Pendred Syndrome; Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct