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 | OLI1311; OLI1310; OLI1309 |
1 variant linked to GBA | GBA:p.Arg368His |
2 diseases linked to GBA | NON RARE IN EUROPE: Alzheimer disease; Amyotrophic lateral sclerosis |