Details for Gene GBA

GENE NAME GBA
CHROMOSOME 1
ENSEMBL ID None
ENTREZ ID None
UNIPROT ACCESSION NUMBER A0A0G2JLB3
GO MOLECULAR FUNCTION ['glucosyltransferase activity', 'steryl-beta-glucosidase activity', 'protein binding', 'glucosylceramidase activity', 'signaling receptor binding', 'scavenger receptor binding']
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa00511; hsa00600; hsa01100; hsa04142; hsa00511; hsa00600; hsa01100; hsa04142; R-HSA-1430728; R-HSA-1660662; R-HSA-390466; R-HSA-390471; R-HSA-391251; R-HSA-392499; R-HSA-428157; R-HSA-556833; hsa00511; hsa00600; hsa01100; hsa04142; hsa00511; hsa00600; hsa01100; hsa04142; R-HSA-1430728; R-HSA-1660662; R-HSA-390466; R-HSA-390471; R-HSA-391251; R-HSA-392499; R-HSA-428157; R-HSA-556833
3 combinations linked to GBA OLI1310; OLI1309; OLI1311
1 variant linked to GBA GBA:p.Arg368His
2 diseases linked to GBA NON RARE IN EUROPE: Alzheimer disease; Amyotrophic lateral sclerosis

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