non-lysosomal glucosylceramidase (NLGase, glucosylceramidase 2, Beta-glucocerebrosidase 2, Beta-glucosidase 2) (GBA2 KIAA1605 AD035)

Function

• non-lysosomal glucosylceramidase
• catalyzes conversion of glucosylceramide to glucose & ceramide
• role in sphingomyelin generation & prevention of glycolipid accumulation
• catalyzes hydrolysis of bile acid 3-O-glucosides, relevance of which is unclear in vivo

D-glucosyl-N-acylsphingosine + H2O
            <-->
D-glucose + N-acylsphingosine

Kinetic parameters:

• KM=1.7 uM for 3beta-D-glucosido-lithocholic
• KM=6.2 uM for 3beta-D-glucosido-chenodeoxycholic
• KM=210 uM for beta-D-glucoside

Structure

• belongs to the non-lysosomal glucosylceramidase family

Compartment

• cell membrane
• not localized to lipid rafts

Alternative splicing

named isoforms=3

Expression

• widely expressed
• highly expressed in brain, heart, skeletal muscle, kidney & placenta & expressed at lower level in liver

More general terms

• glucosylceramidase
• glycoprotein
• membrane protein

Database

• UniProt: http://www.uniprot.org/uniprot/Q9HCG7.html