{"symbol":"GBA","synonyms":["GBA1","GCB","GLUC"],"name":"glucosidase, beta, acid","description":"This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]","ncbiEntrezGeneId":2629,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/2629","proteins":[{"symbol":"GLCM_HUMAN","href":"/api/1.0/protein/GLCM_HUMAN"}],"hgncRootFamilies":[]}