Anti-WFS1 Antibody Picoband® Fluoro488 Conjugated

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.

Predominantly expressed in T-cells. Also detected in proliferating intestinal epithelial cells and in the basal epithelial cells of mammary gland epithelium.

Acts as a negative regulator of entry into mitosis (G2 to M transition) by protecting the nucleus from cytoplasmically activated cyclin B1-complexed CDK1 before the onset of mitosis by mediating phosphorylation of CDK1 on 'Tyr-15'. Specifically phosphorylates and inactivates cyclin B1-complexed CDK1 reaching a maximum during G2 phase and a minimum as cells enter M phase. Phosphorylation of cyclin B1-CDK1 occurs exclusively on 'Tyr-15' and phosphorylation of monomeric CDK1 does not occur. Its activity increases during S and G2 phases and decreases at M phase when it is hyperphosphorylated. A correlated decrease in protein level occurs at M/G1 phase, probably due to its degradation.

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.