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GBA |
LOCUS ID | 2629 | ||||||||||
GENE_SYMBOL | GBA | ||||||||||
GENE NAME | glucosylceramidase b | ||||||||||
SYNONYMNS | GCB, GBA1, GLUC | ||||||||||
CHROMOSOME | 1 | ||||||||||
HOMOLOGENE ID | 68040 |
microRNAs | NA | NA |
GENE SUMMARY |
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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 |
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Complication | Evidence | PMID |
Neuropathy | 1. POLG R964C and GBA L444P mutations in familial Parkinson's disease: Case report and literature review. | 30941926 |