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Key Documents

SAB2104723

Sigma-Aldrich

Anti-SLC26A4 antibody produced in rabbit

affinity isolated antibody

Sinónimos:

Anti-DFNB4, Anti-PDS

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About This Item

UNSPSC Code:
12352203
NACRES:
NA.41

biological source

rabbit

Quality Level

conjugate

unconjugated

antibody form

affinity isolated antibody

antibody product type

primary antibodies

clone

polyclonal

form

buffered aqueous solution

mol wt

86 kDa

species reactivity

mouse, human, dog, guinea pig, rabbit

concentration

0.5 mg - 1 mg/mL

technique(s)

immunohistochemistry: suitable
western blot: suitable

NCBI accession no.

UniProt accession no.

shipped in

wet ice

storage temp.

−20°C

target post-translational modification

unmodified

Gene Information

human ... SLC26A4(5172)

Categorías relacionadas

General description

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

Application

Anti-SLC26A4 antibody produced in rabbit has been used in immunofluorescent staining.

Biochem/physiol Actions

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.

Sequence

Synthetic peptide located within the following region: ELNDRFRHKIPVPIPIEVIVTIIATAISYGANLEKNYNAGIVKSIPRGFL

Physical form

Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.

Disclaimer

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.

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Storage Class

10 - Combustible liquids

wgk_germany

WGK 3

flash_point_f

Not applicable

flash_point_c

Not applicable


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Saima Anwar et al.
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
Yongbo Yu et al.
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
Rita Malesci et al.
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
Andrew Ransick et al.
Developmental cell, 51(3), 399-413 (2019-11-07)
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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