WFS1 Rabbit pAb
Catalog No:AB-A1705
Manufacturer:ABclonal
Synonyms:WFS1;CTRCT41;WFRS;WFS;WFSL;wolframin
Applications:WB,IF
Reactivity:Human,Mouse
Host:Rabbit
Conjugate:No
€65,00 – €370,00
Product Name: | WFS1 Rabbit pAb |
Category: | Polyclonal Antibodies |
Description: | 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. |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-285 of human WFS1 (NP_001139325.1). |
Gene ID: | 7466 |
Swiss prot: | O76024 |
Molecular weight: | 100kDa |
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