Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2

Stable Identifier
R-HSA-5083629
Type
Pathway
Species
Homo sapiens
Locations in the PathwayBrowser
Summation

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 POMT2 (MIM:607439) results in defective glycosylation of DAG1 and can cause severe congenital muscular dystrophy dystroglycanopathies ranging from a severe type A, MDDGA2 (brain and eye abnormalities; MIM:613150), through a less severe type B, MDDGB2 (congenital form with mental retardation; MIM:613156) to a milder type C, MDDGC2 (limb girdle form; MIM:603158) (Bertini et al. 2011, Wells 2013).

Literature References
PubMed ID Title Journal Year
22172424 Congenital muscular dystrophies: a brief review

Bertini, E, D'Amico, A, Gualandi, F, Petrini, S

Semin Pediatr Neurol 2011
23329833 The o-mannosylation pathway: glycosyltransferases and proteins implicated in congenital muscular dystrophy

Wells, L

J. Biol. Chem. 2013
Participants
Participant Of
Disease
Name Identifier Synonyms
muscular dystrophy-dystroglycanopathy 0050588
Authored
Reviewed