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E-AB-91688

WFS1 Polyclonal Antibody

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£195.30

Was £217.00

SKU:
E-AB-91688
Additional Names:
CTRCT41,WFRS,WFS,WFS1,WFSL,wolframin
Application:
WB, IF
Concentration:
1 mg/ml
Purification:
Affinity Purified
Storage Conditions:
-20[o]C Avoid freeze/thaw cycles.
Supplier:
Elabscience
Host:
Rabbit
Reactivities:
Human, Mouse, Rat
Buffer:
Phosphate buffered solution, pH 7.4, containing 0.05% stabilizer and 50% glycerol.
Immunogen:
Recombinant fusion protein of human WFS1
Uniprot:
O76024
Synonyms:
CTRCT41;WFRS;WFS;WFSL;Wolfram syndrome 1 (wolframin);wolframin
Extra Details:
This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene.
Shipping Conditions:
Blue Ice