Gene Symbol: Pomt1
Description: protein-O-mannosyltransferase 1
Alias: AI505244, protein O-mannosyl-transferase 1, dolichyl-phosphate-mannose--protein mannosyltransferase 1
Willer T, Prados B, Falcón Pérez J, Renner Müller I, Przemeck G, Lommel M, et al
. Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality. Proc Natl Acad Sci U S A. 2004;101:14126-31 pubmed
..The first mammalian protein O-mannosyltransferase gene described was the human POMT1. Mutations in the hPOMT1 gene are responsible for Walker-Warburg syndrome (WWS), a severe recessive congenital ..
Prados B, Peña A, Cotarelo R, Valero M, Cruces J. Expression of the murine Pomt1 gene in both the developing brain and adult muscle tissues and its relationship with clinical aspects of Walker-Warburg syndrome. Am J Pathol. 2007;170:1659-68 pubmed
..Moreover, in at least one-fifth of the reported cases, mutations in the POMT1 gene are responsible for this disease. During embryonic development (E8.5 to E11...
Lommel M, Winterhalter P, Willer T, Dahlhoff M, Schneider M, Bartels M, et al
. Protein O-mannosylation is crucial for E-cadherin-mediated cell adhesion. Proc Natl Acad Sci U S A. 2013;110:21024-9 pubmed publisher
..Our results redefine the significance of O-mannosylation in humans and other mammals, showing the immense impact of cadherins on normal as well as pathogenic cell behavior. ..
Henion T, Qu Q, Smith F. Expression of dystroglycan, fukutin and POMGnT1 during mouse cerebellar development. Brain Res Mol Brain Res. 2003;112:177-81 pubmed
Lommel M, Willer T, Strahl S. POMT2, a key enzyme in Walker-Warburg syndrome: somatic sPOMT2, but not testis-specific tPOMT2, is crucial for mannosyltransferase activity in vivo. Glycobiology. 2008;18:615-25 pubmed publisher
..In mammals the protein O-mannosyltransferases POMT1 and POMT2 act as a heteromeric complex to initiate O-mannosylation in the endoplasmic reticulum...
Yagi H, Nakagawa N, Saito T, Kiyonari H, Abe T, Toda T, et al
. AGO61-dependent GlcNAc modification primes the formation of functional glycans on ?-dystroglycan. Sci Rep. 2013;3:3288 pubmed publisher
..These findings provide a key missing link for understanding how the physiologically critical glycan motif is displayed on ?-DG and provides new insights on the pathological mechanisms of dystroglycanopathy. ..