LEMD3, LEM domain containing 3, 23592

N. diseases: 112; N. variants: 5
Disease: Brain Ischemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007786
Disease: Brain Ischemia
Brain Ischemia 		0.010 AlteredExpression disease BEFREE Though the physiological role of PMM2 is catalysis of the mutase reaction that provides the mannose 1-phosphate (Man-1-P) essential for protein glycosylation, PMM1 is thought to provide a phosphohydrolase activity in the presence of inosine monophosphate (IMP), converting glucose 1,6-bisphosphate (Glu-1,6-P<sub>2</sub>) to glucose 6-phosphate (Glu-6-P), rescuing glycolysis during brain ischemia. 29695157 2018