The GBA1 gene provides instructions for making an enzyme called lysosomal acid glucosylceramidase. This enzyme is active in lysosomes, which are structures inside cells that act as recycling centers. Lysosomes use digestive enzymes to break down toxic substances, digest bacteria that invade the cell, and recycle worn-out cell components. Based on these functions, enzymes in the lysosome are sometimes called housekeeping enzymes. Lysosomal acid glucosylceramidase is a housekeeping enzyme that helps break down a large molecule called glucocerebroside into a sugar (glucose) and a simpler fat molecule (ceramide). Glucocerebroside is a component of the membrane that surrounds cells. It gets broken down by lysosomal acid glucosylceramidase when cells die, and the components are reused as new cells are formed.
Other Names
GBA; GLCM_HUMAN; GLUC
Related Genetics Topics
- Gaucher disease — MedlinePlus Genetics
- Parkinson disease — MedlinePlus Genetics
- Dementia with Lewy bodies — MedlinePlus Genetics
Identifiers
- NCBI Gene: 2629
- OMIM: 606463
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
