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HPA039357

Sigma-Aldrich

Anti-WDR73 antibody produced in rabbit

enhanced validation

Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution

Synonym(s):

Anti-FLJ14888, Anti-HSPC264, Anti-WD repeat domain 73

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About This Item

UNSPSC Code:
12352203
Human Protein Atlas Number:
NACRES:
NA.41

biological source

rabbit

Quality Level

conjugate

unconjugated

antibody form

affinity isolated antibody

antibody product type

primary antibodies

clone

polyclonal

product line

Prestige Antibodies® Powered by Atlas Antibodies

form

buffered aqueous glycerol solution

species reactivity

human

enhanced validation

recombinant expression
Learn more about Antibody Enhanced Validation

technique(s)

immunoblotting: 0.04-0.4 μg/mL
immunohistochemistry: 1:50-1:200

immunogen sequence

ISGFDGTVQVYDATSWDGTRSQDGTRSQVEPLFTHRGHIFLDGNGMDPAPLVTTHTWHPCRPRTLLSATNDASLHVWDW

UniProt accession no.

shipped in

wet ice

storage temp.

−20°C

target post-translational modification

unmodified

Gene Information

human ... WDR73(84942)

General description

WD repeat domain 73 (WDR73) belongs to WD repeat domain family of proteins. The motif contains 40-60 amino acids with tryptophan (W) and aspartate (D). WDR73 gene is widely expressed in kidney and brain and is located on human chromosome 15q25.2.

Immunogen

WD repeat domain 73 recombinant protein epitope signature tag (PrEST)

Application

Anti-WDR73 antibody produced in rabbit has been used in immunofluorescence microscopy to confirm role of truncated WDR73 in the nephrocerebellar syndrome .
Applications in which this antibody has been used successfully, and the associated peer-reviewed papers, are given below.
Immunofluorescence (1 paper)

Biochem/physiol Actions

WDR73 plays a key role in the microtubule organization and in the regulation of mitosis and cell proliferation. WDR73 interacts with proteins associated with cell cycle and cell survival. A WDR73 gene mutation leads to Galloway-Mowat syndrome, a rare genetic disorder majorly affecting brain and kidney functions. The truncated WDR73 protein brings poor brain differentiation and this trait is genetically inherited . Mutations are also associated with neurodegeneration in infants, in particular with the cerebellum of the brain.

Features and Benefits

Prestige Antibodies® are highly characterized and extensively validated antibodies with the added benefit of all available characterization data for each target being accessible via the Human Protein Atlas portal linked just below the product name at the top of this page. The uniqueness and low cross-reactivity of the Prestige Antibodies® to other proteins are due to a thorough selection of antigen regions, affinity purification, and stringent selection. Prestige antigen controls are available for every corresponding Prestige Antibody and can be found in the linkage section.

Every Prestige Antibody is tested in the following ways:
  • IHC tissue array of 44 normal human tissues and 20 of the most common cancer type tissues.
  • Protein array of 364 human recombinant protein fragments.

Linkage

Corresponding Antigen APREST81550

Physical form

Solution in phosphate buffered saline, pH 7.2, containing 40% glycerol and 0.02% sodium azide.

Legal Information

Prestige Antibodies is a registered trademark of Merck KGaA, Darmstadt, Germany

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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wgk_germany

WGK 1

flash_point_f

Not applicable

flash_point_c

Not applicable


Certificates of Analysis (COA)

Search for Certificates of Analysis (COA) by entering the products Lot/Batch Number. Lot and Batch Numbers can be found on a product’s label following the words ‘Lot’ or ‘Batch’.

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Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome
Ben-Omran T, et al.
Journal of medical Genetics, 52(6), 381-390 (2015)
WDR73 mutations cause infantile neurodegeneration and variable glomerular kidney disease
Vodopiutz J, et al.
Human Mutation, 36(11), 1021-1028 (2015)
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73
Jinks RN, et al.
Brain, 138(8), 2173-2190 (2015)
Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome
Colin E, et al.
American Journal of Human Genetics, 95(6), 637-648 (2014)
Robert N Jinks et al.
Brain : a journal of neurology, 138(Pt 8), 2173-2190 (2015-06-14)
We describe a novel nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum among 30 children (ages 1.0 to 28 years) from diverse Amish demes. Children with nephrocerebellar syndrome had progressive microcephaly, visual impairment, stagnant psychomotor development, abnormal extrapyramidal movements and nephrosis.

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