Anti-POMT1 Antibody Picoband® Biotin Conjugated
Product Specifications
Background
Protein O-mannosyl-transferase 1 is an enzyme that in humans is encoded by the POMT1 gene. The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K) . Several transcript variants encoding different isoforms have been found for this gene.
Synonyms
POMT1; Protein O-mannosyl-transferase 1; EC 2.4.1.109; Dolichyl-phosphate-mannose--protein mannosyltransferase 1
Gene Name
POMT1
Gene ID
10585
UniProt
Q9Y6A1
Host
Rabbit
Reactivity
Human, Rat
Cross Reactivity
No cross-reactivity with other proteins
Immunogen
E.coli-derived human POMT1 recombinant protein (Position: H224-H747) . Human POMT1 shares 81.1% and 80.9% amino acid (aa) sequence identity with mouse and rat POMT1, respectively.
Clonality
Polyclonal
Applications
WB, IHC, ELISA
Purification
Immunogen affinity purified.
Form
Liquid
References & Citations
1. Balci, B., Uyanik, G., Dincer, P., Gross, C., Willer, T., Talim, B., Haliloglu, G., Kale, G., Hehr, U., Winkler, J., Topaloglu, H. An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene. Neuromusc. Disord. 15: 271-275, 2005. 2. Bello, L., Melacini, P., Pezzani, R., D'Amico, A., Piva, L., Leonardi, E., Torella, A., Soraru, G., Palmieri, A., Smaniotto, G., Gavassini, B. F., Vianello, A., Nigro, V., Bertini, E., Angelini, C., Tosatto, S. C. E., Pegoraro, E. Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy. Europ. J. Hum. Genet. 20: 1234-1239, 2012. 3. Beltran-Valero de Bernabe, D., Currier, S., Steinbrecher, A., Celli, J., van Beusekom, E., van der Zwaag, B., Kayserili, H., Merlini, L., Chitayat, D., Dobyns, W. B., Cormand, B., Lehesjoki, A.-E., Cruces, J., Voit, T., Walsh, C. A., van Bokhoven, H., Brunner, H. G. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am. J. Hum. Genet. 71: 1033-1043, 2002.
Storage Conditions
At -20 ̊C for one year from date of receipt. Avoid repeated freezing and thawing.
Calculated Molecular Weight
85 kDa
Gene Name Synonym
Protein O-mannosyltransferase 1
Protein Name
Protein O-mannosyl-transferase 1
Isotype
Rabbit IgG
Contents
Each vial contains 50% glycerol, 0.9% NaCl, 0.2% Na2HPO4, 0.02% NaN3.
More Discoveries
Explore Other Products
Browse additional items from our catalog