Reactome | LARGE1,2 elongates matriglycan chain with Xyl

LARGE1,2 elongates matriglycan chain with Xyl

Stable Identifier

R-HSA-9638090

Type

Reaction [transition]

Species

Homo sapiens

Compartment

Golgi lumen, Golgi membrane

Synonyms

B4GAT1:LARGE transfers Xyl from UDP-Xyl to GlcA-Xyl-GlcA

ReviewStatus

5/5

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LARGE1,2 elongates matriglycan chain with Xyl

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Xylosyl- and glucuronyltransferase 1 (LARGE1) and 2 (LARGE2) are possible subunits of the B4GAT1:LARGE complex. They transfer a xylosyl moiety from UDP-Xyl to the terminal GlcA moiety of growing matriglycan chains on alpha-dystroglycan (Inamori et al., 2012, Inamori et al., 2013). Mutations in LARGE1 can cause muscular dystrophy-dystroglycanopathies (MDDGB6, MIM:608840, Longman et al., 2003).

Literature References

PubMed ID	Title	Journal	Year
22223806	Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE Inamori, K, Yoshida-Moriguchi, T, Anderson, ME, Yu, L, Hara, Y, Campbell, KP	Science	2012
23125099	Xylosyl- and glucuronyltransferase functions of LARGE in ?-dystroglycan modification are conserved in LARGE2 Inamori, K, Yoshida-Moriguchi, T, Zhu, Z, Willer, T, Anderson, ME, Hara, Y, Campbell, KP	Glycobiology	2013
12966029	Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan Merlini, L, Brown, SC, Kennedy, C, Brockington, M, Torelli, S, Muntoni, F, Feng, L, Voit, T, Sewry, CA, Saran, RK, Khalil, N, Jimenez-Mallebrera, C, Longman, C	Hum. Mol. Genet.	2003