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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.

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