Beta-glucosidase 2, also known as non-lysosomal glucosylceramidase (NLGase), Glucosylceramidase 2, GBA2 or AD035, is a 927 amino acid non-lysosomal glucosylceramidase that catalyzes glucosylceramide into ceramide and free glucose, and is suggested to play a role in carbohydrate transport and metabolism. A single-pass membrane protein, Beta-glucosidase 2 exists as three alternatively spliced isoforms that are widely expressed but found at highest levels in placenta, kidney, brain, skeletal muscle, kidney and heart, with low levels found in liver. Beta-glucosidase 2 activity has been linked to sphingomyelin generation and prevention of glycolipid accumulation. The gene encoding Beta-glucosidase 2 maps to human chromosome 9, which houses over 900 genes and comprises nearly 4% of the human genome.
Function:
GBA2 is a non-lysosomal glucosylceramidase that catalyzes the conversion of glucosylceramide to free glucose and ceramide. It is involved in sphingomyelin generation and prevention of glycolipid accumulation. GBA2 may also catalyze the hydrolysis of bile acid 3-O-glucosides, however, the relevance of such activity is unclear in vivo.
Subcellular Location:
Cell membrane; Single-pass membrane protein. Note=Not localized to lipid rafts.
Tissue Specificity:
Widely expressed. Highly expressed in brain, heart, skeletal muscle, kidney and placenta and expressed at lower level in liver.
Similarity:
Belongs to the non-lysosomal glucosylceramidase family.
SWISS:
Q9HCG7
Gene ID:
57704
Database links:
Entrez Gene: 57704 Human
Entrez Gene: 230101 Mouse
GenBank: NM_020944.2 Human
Omim: 609471 Human
SwissProt: Q9HCG7 Human
SwissProt: Q69ZF3 Mouse
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