XB-FEAT-6457545

gba1

This is the community wiki page for the gene gba1 please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase.

nomenclature changes

17JULY2022

Human symbol has changed for genepage ID: 6457545 From GBA to GBA1

Xenopus symbol has changed for genepage ID: 6457545 From gba to gba1

Xenopus and Human gene name has changed for genepage ID: 6457545 From glucosidase, beta, acid to glucosylceramidase beta 1

summary from NCBI for human GBA1

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]