GBE1

GBA3
Identifiers
Symbol	?
NCBI gene	57733
HGNC	4170
OMIM	609471
RefSeq	NM_020973
UniProt	Q9H158
Other data
EC number	3.2.1.45
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GBA3 (glucosylceramidase beta 3) is a human gene that encodes the enzyme cytosolic beta-glucosidase. This enzyme is involved in the hydrolysis of glycosidic bonds to release glucose from various substrates, including glucosylceramide. GBA3 is distinct from the lysosomal enzyme glucocerebrosidase (GBA1), which is associated with Gaucher's disease.

Function

GBA3 is a member of the glycoside hydrolase family 1 and is primarily located in the cytosol. It plays a role in the metabolism of glycosphingolipids and other glycosides. Unlike GBA1, which is involved in lysosomal degradation, GBA3 functions in the cytosol and has a broader substrate specificity, including the ability to hydrolyze plant-derived glycosides.

Structure

The GBA3 protein is composed of 469 amino acids and has a molecular weight of approximately 54 kDa. The enzyme contains a catalytic domain typical of glycoside hydrolases, which is responsible for its enzymatic activity. The structure of GBA3 has been resolved through X-ray crystallography, revealing the active site and substrate binding regions.

Clinical Significance

While GBA3 is not directly associated with any known human diseases, its activity can influence the metabolism of dietary glycosides and xenobiotics. Variations in GBA3 activity may affect the pharmacokinetics of certain drugs and the bioavailability of dietary compounds.

Research

Research on GBA3 has focused on its role in drug metabolism and its potential as a target for modulating the effects of dietary glycosides. Studies have also explored the enzyme's evolutionary relationship with other beta-glucosidases and its potential applications in biotechnology.

Also see

• Glucocerebrosidase
• Gaucher's disease
• Glycoside hydrolase
• Lysosomal storage disorders