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Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1

Summary

Organism

Homo sapiens (human)

Reactome

R-HSA-5083633

PubChem

R-HSA-5083633

Description

Co-expression of both protein O-mannosyl-transferases 1 and 2 (POMT1 and POMT2; CAZy family GT39) is necessary for enzyme activity, that is mediating the transfer of mannosyl residues to the hydroxyl group of serine or threonine residues of proteins such as alpha-dystroglycan (DAG1; MIM:128239). DAG1 is a cell surface protein that plays an important role in the assembly of the extracellular matrix in muscle, brain, and peripheral nerves by linking the basal lamina to cytoskeletal proteins. Defects in POMT1 (MIM:607423) results in defective glycosylation of DAG1 and can cause severe congenital muscular dystrophy-dystroglycanopathies ranging from a severe type A, MDDGA1 (brain and eye abnormalities; MIM:236670), through a less severe type B, MDDGB1 (congenital form with mental retardation; MIM:613155) to a milder type C, MDDGC1 (limb girdle form; MIM:609308) (Bertini et al. 2011, Wells 2013).

Click on a node on the pathway to see its details. Glycoproteins are marked with a glycoprotein icon in their name.

SPV: a JavaScript Signaling Pathway Visualizer, Bioinformatics, 2018

Displaying **all 3** entries
UniProt ID	Protein Name	Gene Symbol	Pathway Viewer
Q14118	Dystroglycan 1	DAG1	view
Q9UKY4	Protein O-mannosyl-transferase 2	POMT2	view
Q9Y6A1	Protein O-mannosyl-transferase 1	POMT1	view

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