GBA2, Official Symbol GBA2provided by HGNC Official Full Name glucosylceramidase beta 2provided by HGNC Primary source HGNC:HGNC:18986 See related Ensembl:ENSG00000070610 MIM:609471; AllianceGenome:HGNC:18986 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AD035; SPG46; NLGase 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] Expression Ubiquitous expression in small intestine (RPKM 30.3), duodenum (RPKM 27.9) and 25 other tissues See more Orthologs mouse all