Anti-WFS1 Antibody Picoband®

SKU: A01326-2

Size: 100 μg

Storage: At -20℃ for one year from date of receipt. After reconstitution, at 4℃ for one month. It can also be aliquotted and stored frozen at -20℃ for six months. Avoid repeated freezing and thawing.

Form: Lyophilized

Reactivity: Human

Applications: WB,ELISA

Application Details: Western blot, 0.25-0.5 μg/ml, Human
ELISA, 0.1-0.5 μg/ml, -

Gene Name: WFS1

Specificity:

Background: Wolframin is a protein that in humans is encoded by the WFS1 gene. 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: E.coli-derived human WFS1 recombinant protein (Position: D272-K876).

Clonality: Polyclonal

Contents: Each vial contains 4 mg Trehalose, 0.9 mg NaCl, 0.2 mg Na2HPO4.

Purification: Immunogen affinity purified.

Reconstitution: Adding 0.2 ml of distilled water will yield a concentration of 500 μg/ml.

Reference: 1. Berry, V., Gregory-Evans, C., Emmett, W., Waseem, N., Raby, J., Prescott, D., Moore, A. T., Bhattacharya, S. S. Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans. Europ. J. Hum. Genet. 21: 1356-1360, 2013. 2. Bespalova, I. N., Van Camp, G., Bom, S. J. H., Brown, D. J., Cryns, K., DeWan, A. T., Erson, A. E., Flothmann, K., Kunst, H. P. M., Kurnool, P., Sivakumaran, T. A., Cremers, C. W. R. J., Leal, S. M., Burmeister, M., Lesperance, M. M. Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. Hum. Molec. Genet. 10: 2501-2508, 2001. 3. Colosimo, A., Guida, V., Rigoli, L., Di Bella, C., De Luca, A., Briuglia, S., Stuppia, L., Salpietro, D. C., Dallapiccolo, B. Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay. Hum. Mutat. 21: 622-629, 2003.

Uniprot ID: O76024

Host: Rabbit

Concentration: Adding 0.2 ml of distilled water will yield a concentration of 500 μg/ml.

Conjugate:

Cross Reactivity: No cross-reactivity with other proteins.

Isotype: Rabbit IgG

Phospho_site:

Clone Number:

Observed Molecular Weight: 100 kDa

Calculated Molecular Weight: 60066 MW

Gene ID: 7466

Protein Name: Wolframin

Gene Full Name: wolframin ER transmembrane glycoprotein

Synonyms: WFRS; WFS; WFS1; WOLFRAMIN