biomarker 1,075 words KG: GLUCOCEREBROSIDASE (GCASE)
Contents

Glucocerebrosidase (GCase) - Biomarker

🔬 Protein Info
Gene SymbolGLUCOCEREBROSIDASE
Amino Acids497 aa
PathwaysSphingolipid Metabolism, Lipid Metabolism
Enzyme deficiencyReduced GCase activity in PD/DLB
Lysosomal dysfunctionGCase loss impairs alpha-synuclein clearance
Genetic interactionGBA1 mutations increase PD risk
Therapeutic targetGCase modulators in development
Diagnostic utilityLower GCase helps distinguish PD from essential tremor
GBA1 stratificationIdentifies PD patients who may benefit from GCase-targeted therapy
Progression markerLower activity correlates with faster cognitive decline
Subtype classificationHelps identify lysosomal dysfunction subtype
DLB vs. ADLower GCase in DLB than in AD
Correlation with pathologyGCase activity inversely correlates with Lewy body burden
Prognostic valueLow GCase predicts faster progression
CarriersHeterozygous GBA1 mutation carriers have 5-20x PD risk
Associated DiseasesGaucher disease, Parkinson's disease
DatabasesGeneCardsUniProtNCBI GeneHPASTRING

No AI portrait yet

Knowledge Graph

Agent Input

💡 Improve this page

🌐 Cross-references

Wikipedia

Community Feedback

0 0 upvotes · 0 downvotes
💬 0 comments ⚠ 0 flags ✏ 0 edit suggestions

No comments yet. Be the first to comment!

View all feedback (JSON)

💬 Discussion (Talk page)

Loading comments...
Public annotations (0)Annotate on Hypothes.is →
No public annotations yet.