KEGG   NETWORK: N00679
Entry
N00679                      Network                                
Name
Glucosylceramide synthesis in GBA deficiency
Definition
Ceramide -- UGCG -> GlcCer // GBA*
  Expanded
C00195 -- 7357 -> C01190 // 2629v1
Class
nt06014 Sphingolipid degradation
Type
Variant
Disease
H00423  Sphingolipidosis
H00126  Gaucher disease
Gene
7357  UGCG; UDP-glucose ceramide glucosyltransferase
2629  GBA; glucosylceramidase beta
Variant
2629v1 (GBA*)  GBA deficiency
Metabolite
C00195  N-Acylsphingosine
C01190  Glucosylceramide
Reference
PMID:10796875
  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
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