POMT1 Antibody (G-10): sc-390451

POMT1 Antibody (G-10) is a mouse monoclonal IgG3 kappa light chain antibody that detects POMT1 protein of mouse, rat, and human origin by western blotting (WB), immunoprecipitation (IP), immunofluorescence (IF), and enzyme-linked immunosorbent assay (ELISA). Anti-POMT1 antibody (G-10) is available as the non-conjugated form. POMT1, which consists of 725 amino acids, plays a crucial role in O-mannosylation, an essential post-translational modification in eukaryotes initiated by a conserved family of protein O-mannosyltransferases. This modification is vital for proper protein folding, stability, and function, influencing various cellular processes, including cell signaling and adhesion. POMT1 contains seven to twelve presumed transmembrane regions and a C-terminal endoplasmic reticulum membrane retention signal, which are important for localization and function within cells. RNA dot blot analysis indicates that POMT1 is ubiquitously expressed, with highest levels found in testis and significant expression in fetal brain and pituitary tissues. Mutations in POMT1 are associated with Walker-Warburg syndrome (WWS), a severe congenital muscular dystrophy characterized by defects in neuronal migration that lead to complex brain and eye abnormalities, underscoring POMT1′s importance in developmental processes.

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POMT1 Antibody (G-10) References:

1. The twisted abdomen phenotype of Drosophila POMT1 and POMT2 mutants coincides with their heterophilic protein O-mannosyltransferase activity.  |  Ichimiya, T., et al. 2004. J Biol Chem. 279: 42638-47. PMID: 15271988
2. Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality.  |  Willer, T., et al. 2004. Proc Natl Acad Sci U S A. 101: 14126-31. PMID: 15383666
3. Mutations of the POMT1 gene found in patients with Walker-Warburg syndrome lead to a defect of protein O-mannosylation.  |  Akasaka-Manya, K., et al. 2004. Biochem Biophys Res Commun. 325: 75-9. PMID: 15522202
4. Expression and localization of fukutin, POMGnT1, and POMT1 in the central nervous system: consideration for functions of fukutin.  |  Yamamoto, T., et al. 2004. Med Electron Microsc. 37: 200-7. PMID: 15614444
5. Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.  |  Currier, SC., et al. 2005. Am J Med Genet A. 133A: 53-7. PMID: 15637732
6. 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.  |  Balci, B., et al. 2005. Neuromuscul Disord. 15: 271-5. PMID: 15792865
7. The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.  |  van Reeuwijk, J., et al. 2006. Hum Mutat. 27: 453-9. PMID: 16575835
8. Molecular cloning and characterization of rat Pomt1 and Pomt2.  |  Manya, H., et al. 2006. Glycobiology. 16: 863-73. PMID: 16704966
9. Expanding the clinical spectrum of POMT1 phenotype.  |  D'Amico, A., et al. 2006. Neurology. 66: 1564-7; discussion 1461. PMID: 16717220