GBA
LOCUS ID2629
GENE_SYMBOLGBA
GENE NAMEglucosylceramidase b
SYNONYMNSGCB, GBA1, GLUC
CHROMOSOME1
HOMOLOGENE ID68040
microRNAsNANA
GENE SUMMARY
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.

OBSERVATIONS

Complication Evidence PMID
Neuropathy1. POLG R964C and GBA L444P mutations in familial Parkinson's disease: Case report and literature review.30941926