Gene Symbol | GBA2 |
Entrez Gene ID | 57704 |
Full Name | glucosylceramidase beta 2 |
Synonyms | AD035,NLGase,SPG46 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Spastic paraplegia 46, autosomal recessive, 614409 (3) |