Contents

GBA1 — Glucocerebrosidase

🧬 Gene Info

Gene Symbol	GBA1
Full Name	Glucocerebrosidase
Chromosome	1q22
Protein Type	Enzyme
Function	is a lysosomal enzyme encoded by the GBA1 gene that plays a critical role in the breakdown of glucocerebroside into glucose and ceramide.
Molecular Weight	52 kDa
Amino Acids	497 aa
Exons	11
Pathways	Akt, Blood-Brain Barrier, Immune Response, Pi3K
UniProt ID	P04062
NCBI Gene ID	2629
Ensembl ID	ENSG00000177693
OMIM	606463
GeneCards	GBA1
Human Protein Atlas	GBA1
Associated Diseases	Aging, Als, Alzheimer, Cancer, dementia with Lewy bodies
Known Drugs/Compounds	AAV5, AAV9, Ambroxol, Bi-Htfr1, BI-hTFR1, levodopa
Interactions	ABCA1, Actin, AKT, ALPHA-SYNUCLEIN, AMPK, AND
KG Connections	421 knowledge graph edges
Databases	GeneCards HPA STRING

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Knowledge Graph

JUN interacts_with GBA1

TFR1 activates GBA1

GBA1 interacts_with TFRC

GBA1 activates LRRK2

GBA1 interacts_with JUN

LRRK2 activates GBA1

LRRK2 therapeutic_target GBA1

SNCA activates GBA1

GBA1 activates TFR1

GBA1 regulates TFRC