The solute carrier family 26 member 4 (SLC26A4) gene encodes for the protein, pendrin. This protein is localized in the thyroid and inner ear. The SLC26A4 gene is located on the human chromosome at 7q22.3.
Immunogen
Synthetic peptide directed towards the middle region of human SLC26A4
Anwendung
Anti-SLC26A4 antibody produced in rabbit has been used in immunofluorescent staining.[1]
Biochem./physiol. Wirkung
Pendrin is a transmembrane protein and is involved in the exchange of anions. Mutations in the SLC26A4 gene are associated with Pendred syndrome which is an autosomal recessive disorder, identified by goiter and sensorineural hearing loss. SLC26A4 gene mutations lead to an enlarged vestibular aqueduct (EVA), which is an inner ear malformation with non-syndromic deafness.
Sequenz
Synthetic peptide located within the following region: ELNDRFRHKIPVPIPIEVIVTIIATAISYGANLEKNYNAGIVKSIPRGFL
Physikalische Form
Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.
Haftungsausschluss
Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.
Clinical and experimental otorhinolaryngology, 12(1), 50-57 (2018-08-09)
To investigate the genetic causes of hearing loss with enlarged vestibular aqueduct (EVA) in two children from unrelated two Chinese families. Sanger sequencing of all coding exons in SLC26A4 (encoding Pendrin protein) was performed on the two patients, their sibling
Journal of human genetics, 54(5), 266-270 (2009-03-17)
Pendred's syndrome (PDS) is an autosomal-recessive disorder characterized by sensorineural hearing loss and goiter. PDS is caused by mutations of the SLC26A4 gene encoding pendrin, a transmembrane exchanger of Cl(-), I(-) and HCO(3)(-), which is expressed in the thyroid and
International journal of pediatric otorhinolaryngology, 134, 110018-110018 (2020-04-07)
Sensorineural hearing loss is a heterogeneous disease caused by mutations in many genes. However, in the presence of enlarged vestibular aqueduct, it is frequently associated with mutations in the solute carrier family 26 member 4 (SLC26A4), a gene causative of
Chronic kidney disease affects 10% of the population with notable differences in ethnic and sex-related susceptibility to kidney injury and disease. Kidney dysfunction leads to significant morbidity and mortality and chronic disease in other organ systems. A mouse-organ-centered understanding underlies
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