GBA2

Description

The GBA2 (glucosylceramidase beta 2) is a protein-coding gene located on chromosome 9.

GBA2 is the gene responsible for producing the enzyme non-lysosomal glucosylceramidase, also known as beta-glucocerebrosidase 2. This enzyme is located within the endoplasmic reticulum, a cellular organelle involved in protein synthesis and lipid metabolism. It plays a role in the breakdown of bile acid 3-O-glucosides, which are complex molecules involved in digestion and absorption of fats. GBA2 is also involved in the transport and metabolism of carbohydrates.

Non-lysosomal glucosylceramidase (NLGase) catalyzes the breakdown of glucosylceramides (GlcCers) into glucose and ceramides. GlcCers are important components of cell membranes, playing roles in cell growth, differentiation, and communication. NLGase also participates in cholesterol metabolism by transferring glucose from GlcCer to cholesterol, affecting its solubility and properties. Additionally, NLGase can hydrolyze bile acid glucosides and produce bile acid-glucose conjugates, suggesting a role in bile acid metabolism. While NLGase can also hydrolyze galactosylceramides (GalCers) and transfer galactose between GalCers and cholesterol, it exhibits lower activity compared to its action on GlcCers. {ECO:0000250|UniProtKB:Q69ZF3, ECO:0000269|PubMed:11489889, ECO:0000269|PubMed:17080196, ECO:0000269|PubMed:17105727, ECO:0000269|PubMed:30308956, ECO:0000269|PubMed:32144204, ECO:0000269|PubMed:9111029, ECO:0000305|PubMed:32144204}

GBA2 is also known as AD035, NLGase, SPG46.

Associated Diseases

• Spastic paraplegia 46, autosomal recessive
• Autosomal recessive cerebellar ataxia with late-onset spasticity
• Autosomal recessive spastic paraplegia type 46