Gene Symbol: Pomgnt2
Description: protein O-linked mannose beta 1,4-N-acetylglucosaminyltransferase 2
Alias: Ago61, C85492, Gtdc2, protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2, glycosyltransferase, glycosyltransferase-like domain containing 2, glycosyltransferase-like domain-containing protein 2
Yoshida Moriguchi T, Willer T, Anderson M, Venzke D, Whyte T, Muntoni F, et al
. SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function. Science. 2013;341:896-9 pubmed publisher
..However, the enzymes that produce this structure have not been fully elucidated. We found that glycosyltransferase-like domain-containing 2 (GTDC2) is a protein O-linked mannose ? 1,4-N-acetylglucosaminyltransferase whose ..
Manzini M, Tambunan D, Hill R, Yu T, Maynard T, Heinzen E, et al
. Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. Am J Hum Genet. 2012;91:541-7 pubmed publisher
..GTDC2's predicted role as an uncharacterized glycosyltransferase is consistent with the function of other genes that are known to be mutated in WWS and that are involved in ..
Sakaidani Y, Ichiyanagi N, Saito C, Nomura T, Ito M, Nishio Y, et al
. O-linked-N-acetylglucosamine modification of mammalian Notch receptors by an atypical O-GlcNAc transferase Eogt1. Biochem Biophys Res Commun. 2012;419:14-9 pubmed publisher
..These results suggest that Eogt1 encodes EGF domain O-GlcNAc transferase and that O-GlcNAcylation reaction in the secretory pathway is a fundamental biochemical process conserved through evolution. ..
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
..A product of a recently identified causative gene for dystroglycanopathy, AGO61, acted in vitro as a protein O-mannose ?-1, 4-N-acetylglucosaminyltransferase, although it was not functionally ..
Nakagawa N, Yagi H, Kato K, Takematsu H, Oka S. Ectopic clustering of Cajal-Retzius and subplate cells is an initial pathological feature in Pomgnt2-knockout mice, a model of dystroglycanopathy. Sci Rep. 2015;5:11163 pubmed publisher
..Using the Pomgnt2-knockout (KO) mouse as a dystroglycanopathy model, we show that breaches of the pial basement membrane appeared ..