biomarker 1,075 words KG: GLUCOCEREBROSIDASE (GCASE) 2026-03-24
kind:biomarkersection:biomarkersstate:published
Contents

Glucocerebrosidase (GCase) - Biomarker

🔬 Protein Info
Gene SymbolGBA1
Full NameGlucocerebrosidase
Chromosome1q22
Protein TypeEnzyme
Functionis a lysosomal enzyme encoded by the GBA1 gene that plays a critical role in the breakdown of glucocerebroside into glucose and ceramide.
Subcellular LocalizationLysosome
Molecular Weight~63 kDa (dimer)
Amino Acids497 aa
Exons11
PathwaysAkt, Blood-Brain Barrier, Immune Response, Pi3K
UniProt IDP04062
NCBI Gene ID2629
Ensembl IDENSG00000177693
OMIM606463
GeneCardsGBA1
Human Protein AtlasGBA1
Associated DiseasesALS, Aging, Alzheimer, Cancer, Gaucher Disease
Known Drugs/CompoundsBI-hTFR1, Bi-Htfr1, AAV5, AAV9, levodopa, rapamycin
InteractionsTFRC, LRRK2, JUN, TFR1, SNCA, MLKL
KG Connections434 knowledge graph edges
DatabasesGeneCardsHPASTRING

Knowledge Graph