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POMT1:POMT2 mutants [endoplasmic reticulum membrane]
Stable Identifier
R-HSA-9631789
Type
Complex
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Locations in the PathwayBrowser
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Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of glycosylation (Homo sapiens)
Diseases associated with O-glycosylation of proteins (Homo sapiens)
Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2 (Homo sapiens)
Defective POMT2 does not transfer Man from Dol-P-Man to DAG1 (Homo sapiens)
POMT1:POMT2 mutants [endoplasmic reticulum membrane] (Homo sapiens)
Participants
components
POMT1 [endoplasmic reticulum membrane]
(Homo sapiens)
POMT2 mutants [endoplasmic reticulum membrane]
(Homo sapiens)
Disease
Name
Identifier
Synonyms
muscular dystrophy-dystroglycanopathy
DOID:0050588
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