基因名:
GBA2
产品别名:
AD035; NLGase; SPG46; GBA2; glucosylceramidase beta 2; glucosylceramidase beta 2; non-lysosomal glucosylceramidase; beta-glucocerebrosidase 2; bile acid beta-glucosidase GBA2; bile acid glucosyl transferase GBA2; cholesterol glucosyltransferase GBA2; cholesteryl-beta-glucosidase GBA2; glucocerebrosidase 2; glucosidase, beta (bile acid) 2; glucosylceramidase 2; non-lysosomal cholesterol glycosyltransferase; non-lysosomal galactosylceramidase; non-lysosomal glycosylceramidase; β葡萄糖苷酶2;
背景信息:
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.