C104422Level 5
GBA1 wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human GBA1 wild-type allele is located in the vicinity of 1q22 and is approximately 10 kb in length. This allele, which encodes lysosomal acid glucosylceramidase protein, is involved in the production of ceramides from glucosylceramides. Mutations in this gene are associated with Gaucher disease and with increased susceptibility to Lewy body dementia or late-onset Parkinson disease.
**Synonyms:** - Beta-Glucosidase, Acid Gene - GBA - GBA wt Allele - GC - GCB - GLUC - Glucosidase, Beta, Acid Gene - Glucosidase, Beta; Acid (includes Glucosylceramidase) Gene - Glucosylceramidase Beta 1 wt Allele
GET
/api/v1/systems/nci_thesaurus/nodes/C104422Hierarchy Explorer
Loading...
Cross-system equivalences0
No cross-system equivalences mapped for this node.