Reactome | POMGNT2 transfers GlcNAc to Man-DAG1

POMGNT2 transfers GlcNAc to Man-DAG1

Stable Identifier

R-HSA-8879117

Type

Reaction [transition]

Species

Homo sapiens

Compartment

endoplasmic reticulum lumen, endoplasmic reticulum membrane

Synonyms

DAG1 extension by B3GALNT2, POMGNT2, SGK196

ReviewStatus

5/5

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Protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2 (POMGNT2) transfers N-acetyl-D-glucosamine (GlcNAc) from UDP-GlcNAc to the 4-position of O-mannosylated alpha-dystroglycan (DAG1(30-653)) to generate N-acetyl-D-glucosamine-beta-1,4-O-D-mannosyl-DAG1 (Yoshida-Moriguchi et al. 2013). Defects in POMGNT2 can cause muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A8 (MDDGA8; MIM:614830), a congenital muscular dystrophy that severely affects the development of the brain, eyes, and muscle, profound mental retardation, and death usually in the first years of life. This phenotype is also described as Walker-Warburg syndrome (WWS), which represents the most severe end of a phenotypic spectrum of dystroglycanopathies (Manzini et al. 2012). Other mutations in POMGNT2 can cause the milder dystroglycanopathy MDDGC8 (MIM:618135; Endo et al., 2015).

Literature References

PubMed ID	Title	Journal	Year
27066570	Milder forms of muscular dystrophy associated with POMGNT2 mutations Endo, Y, Dong, M, Noguchi, S, Ogawa, M, Hayashi, YK, Kuru, S, Sugiyama, K, Nagai, S, Ozasa, S, Nonaka, I, Nishino, I	Neurol Genet	2015
23929950	SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function Yoshida-Moriguchi, T, Willer, T, Anderson, ME, Venzke, D, Whyte, T, Muntoni, F, Lee, H, Nelson, SF, Yu, L, Campbell, KP	Science	2013
22958903	Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome Manzini, MC, Tambunan, DE, Hill, RS, Yu, TW, Maynard, TM, Heinzen, EL, Shianna, KV, Stevens, CR, Partlow, JN, Barry, BJ, Rodriguez, J, Gupta, VA, Al-Qudah, AK, Eyaid, WM, Friedman, JM, Salih, MA, Clark, R, Moroni, I, Mora, M, Beggs, AH, Gabriel, SB, Walsh, CA	Am. J. Hum. Genet.	2012