Previous symbols: GLUC, GBA.
KB entries label this CURIE GBA; HGNC's current symbol is GBA1.
GBA1 encodes lysosomal acid glucosylceramidase, a LIMP-2/SCARB2-trafficked lysosomal enzyme that hydrolyzes glucosylceramide to ceramide and glucose. Its core function is lysosomal glycosphingolipid catabolism at the lumenal side of the lysosomal membrane. Loss of GCase activity also impairs autophagic lysosome reformation, lysosomal recycling, and alpha-synuclein/lysosomal proteostasis in disease models, while cholesterol glucosylation, steryl-beta-glucoside hydrolysis, ceramide salvage, and inflammatory signaling are supported non-core contexts.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Dementia with Lewy Bodies | susceptibility | |
| Gaucher Disease | causativerisk factor germline |
mechanism: GBA1 Mutation; Glucocerebrosidase Deficiency
subtype: Cardiovascular; Perinatal lethal; Type 1; Type 2; Type 3
scoped to subtype: Cardiovascular, Type 1, Type 2, Type 3
|
| Parkinson's Disease | risk factor |
mechanism: Autophagy-Lysosome Pathway Dysfunction
discussion: (unnamed)
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| Parkinson disease MONDO:0005180 | AD | Definitive 2022-05-03 |
Parkinson's Disease
risk factor
|
| Gaucher disease MONDO:0018150 | AR | Definitive 2020-06-24 |
Gaucher Disease
causative and risk factor
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.