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 conversion of glucosylceramide (GlcCer) to free glucose and ceramide. Involved in sphingomyelin generation and prevention of glycolipid accumulation. May also catalyze the hydrolysis of bile acid 3-O-glucosides, however, the relevance of such activity is unclear in vivo. Plays a role in central nevous system development. Required for proper formation of motor neuron axons.

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 35,749,255 on chromosome 9 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

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