GBA2 gene

glucosylceramidase beta 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a microsomal beta-glucosidase that catalyzes the hydrolysis of bile acid 3-O-glucosides as endogenous compounds. Studies to determine subcellular localization of this protein in the liver indicated that the enzyme was mainly enriched in the microsomal fraction where it appeared to be confined to the endoplasmic reticulum. This putative transmembrane protein is thought to play a role in carbohydrate transport and metabolism. [provided by RefSeq, Jul 2008]

From UniProt:

Non-lysosomal glucosylceramidase that catalyzes the hydrolysis of glucosylceramide (GlcCer) to free glucose and ceramide (PubMed:17105727, PubMed:30308956). Glucosylceramides are membrane glycosphingolipids that have a wide intracellular distribution (By similarity). They are the main precursors of more complex glycosphingolipids that play a role in cellular growth, differentiation, adhesion, signaling, cytoskeletal dynamics and membrane properties (By similarity). Also involved in the transglucosylation of cholesterol, transferring glucose from glucosylceramides, thereby modifying its water solubility and biological properties (By similarity). Under specific conditions, may catalyze the reverse reaction, transferring glucose from cholesteryl-beta-D-glucoside to ceramide (By similarity). Finally, may also play a role in the metabolism of bile acids (PubMed:11489889, PubMed:9111029, PubMed:17080196). It is able to hydrolyze bile acid 3-O-glucosides but also to produce bile acid-glucose conjugates thanks to a bile acid glucosyl transferase activity (PubMed:11489889, PubMed:9111029, PubMed:17080196). However, the relevance of both activities is unclear in vivo.

From NCBI Gene:

  • Spastic paraplegia 46, autosomal recessive

From UniProt:

Spastic paraplegia 46, autosomal recessive (SPG46): A neurodegenerative disorder characterized by onset in childhood of slowly progressive spastic paraplegia and cerebellar signs. Some patients have cognitive impairment, cataracts, and cerebral, cerebellar, and corpus callosum atrophy on brain imaging. [MIM:614409]

Cytogenetic Location: 9p13.3, which is the short (p) arm of chromosome 9 at position 13.3

Molecular Location: base pairs 35,736,862 to 35,749,236 on chromosome 9 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 9p13.3, which is the short (p) arm of chromosome 9 at position 13.3
  • AD035
  • NLGase
  • SPG46