KEGG   VARIANT: 5660v1
Entry
5660v1                      Variant                                
Name
PSAP deficiency
Gene
PSAP  prosaposin [KO:K12382]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 176801
Network
nt06014  Sphingolipid degradation
  Element
N00643  Loss of saposin stimulation
Disease
H00126  Gaucher disease
H00135  Krabbe disease
H00423  Sphingolipidosis
Reference
  Authors
Hulkova H, Cervenkova M, Ledvinova J, Tochackova M, Hrebicek M, Poupetova H, Befekadu A, Berna L, Paton BC, Harzer K, Boor A, Smid F, Elleder M
  Title
A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation.
  Journal
Hum Mol Genet 10:927-40 (2001)
DOI:10.1093/hmg/10.9.927
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