Rabbit anti-Human GBA2 Polyclonal Antibody

Uniprot Id

Q9HCG7

Target Species

Human

Target Name

GBA2

Target Full Name

Non-lysosomal glucosylceramidase

Target Function

Non-lysosomal glucosylceramidase that catalyzes the hydrolysis of glucosylceramide (GlcCer) to free glucose and ceramide. Glucosylceramides are membrane glycosphingolipids that have a wide intracellular distribution. They are the main precursors of more complex glycosphingolipids that play a role in cellular growth, differentiation, adhesion, signaling, cytoskeletal dynamics and membrane properties. Also involved in the transglucosylation of cholesterol, transferring glucose from glucosylceramides, thereby modifying its water solubility and biological properties. Under specific conditions, may catalyze the reverse reaction, transferring glucose from cholesteryl-beta-D-glucoside to ceramide. Finally, may also play a role in the metabolism of bile acids. 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. However, the relevance of both activities is unclear in vivo.

Target Involvement

Spastic paraplegia 46, autosomal recessive (SPG46)

Target Subcellular Location

Endoplasmic reticulum membrane; Peripheral membrane protein; Cytoplasmic side. Golgi apparatus membrane; Peripheral membrane protein; Cytoplasmic side.

Target Protein Families

Non-lysosomal glucosylceramidase family

Target Tissue Specificity

Widely expressed. Mainly expressed in brain, heart, skeletal muscle, kidney and placenta and expressed at lower levels in liver, spleen, small intestine and lung. Detectable in colon, thymus and peripheral blood leukocytes.

Target Synonyms

GBA2; KIAA1605; SPG46; AD035Non-lysosomal glucosylceramidase; NLGase; EC 3.2.1.45; Beta-glucocerebrosidase 2; Beta-glucosidase 2; Bile acid beta-glucosidase GBA2; Bile acid glucosyl transferase GBA2; Cholesterol glucosyltransferase GBA2; EC 2.4.1.-; Cholesteryl-beta-glucosidase GBA2; EC 3.2.1.104; Glucosylceramidase 2

Target Background

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.