Gene Symbol: Pomk
Description: protein-O-mannose kinase
Alias: 4930444A02Rik, Sgk196, protein O-mannose kinase, protein kinase-like protein SgK196, sugen kinase 196
Vogel P, Read R, Hansen G, Payne B, Small D, Sands A, et al
. Congenital hydrocephalus in genetically engineered mice. Vet Pathol. 2012;49:166-81 pubmed publisher
..Also, characterization of mouse models can enhance understanding of important cell signaling and developmental pathways involved in the pathogenesis of hydrocephalus. ..
Di Costanzo S, Balasubramanian A, Pond H, Rozkalne A, Pantaleoni C, Saredi S, et al
. POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. Hum Mol Genet. 2014;23:5781-92 pubmed publisher
..b>POMK, which was found mutated in two dystroglycanopathy cases, is instead involved in a glycan phosphorylation reaction ..
Nagae M, Mishra S, Neyazaki M, Oi R, Ikeda A, Matsugaki N, et al
. 3D structural analysis of protein O-mannosyl kinase, POMK, a causative gene product of dystroglycanopathy. Genes Cells. 2017;22:348-359 pubmed publisher
..Phosphorylation at C6-position of O-mannose catalyzed by protein O-mannosyl kinase (POMK) is a crucial step in the biosynthetic pathway of O-mannose glycan...
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
..Furthermore, we identified SGK196 as an atypical kinase that phosphorylated the 6-position of O-mannose, specifically after the mannose had been ..