gene 1,315 words KG: GBA1
Contents

GBA1 — Glucocerebrosidase

🧬 Gene 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.
Molecular Weight52 kDa
Amino Acids497 aa
Exons11
PathwaysAkt, Blood-Brain Barrier, Immune Response, Pi3K
UniProt IDP04062
NCBI Gene ID2629
Ensembl IDENSG00000177693
OMIM606463
GeneCardsGBA1
Human Protein AtlasGBA1
Associated DiseasesAging, Als, Alzheimer, Cancer, dementia with Lewy bodies
Known Drugs/CompoundsAAV5, AAV9, Ambroxol, Bi-Htfr1, BI-hTFR1, levodopa
InteractionsABCA1, Actin, AKT, ALPHA-SYNUCLEIN, AMPK, AND
SciDEX HypothesesGBA1-Deficiency Disrupts Mitochondrial- Lysosomal
PD-Associated GWAS Variants in CTSO and CTSF Genes
Glucosylceramide Accumulation from GCase Deficienc (+1 more)
KG Connections419 knowledge graph edges
DatabasesGeneCardsHPASTRING

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