KEGG   VARIANT: 2629v1
Entry
2629v1                      Variant                                
Name
GBA deficiency
Gene
GBA1  glucosylceramidase beta 1 [KO:K01201]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606463
Network
nt06014  Sphingolipid degradation
  Element
N00679  Glucosylceramide synthesis in GBA deficiency
N10017  Replacement of deficient GBA
N10018  UGCG inhibitor for deficient GBA
Disease
H00126  Gaucher disease
H00423  Sphingolipidosis
Drug target
Alglucerase: D02810
Imiglucerase: D03020<JP/US>
Taliglucerase alfa: D09675<US>
Velaglucerase alfa: D09029<JP/US>
Reference
PMID:2349952
  Authors
Latham T, Grabowski GA, Theophilus BD, Smith FI
  Title
Complex alleles of the acid beta-glucosidase gene in Gaucher disease.
  Journal
Am J Hum Genet 47:79-86 (1990)
Reference
  Authors
Koprivica V, Stone DL, Park JK, Callahan M, Frisch A, Cohen IJ, Tayebi N, Sidransky E
  Title
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.
  Journal
Am J Hum Genet 66:1777-86 (2000)
DOI:10.1086/302925
LinkDB

DBGET integrated database retrieval system