KEGG   VARIANT: 5660v1
Entry
5660v1                      Variant                                
Name
PSAP deficiency
Gene
PSAP  prosaposin isoform a preproprotein [KO:K12382]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 176801
Network
nt06014  Sphingolipid degradation
nt06551  Lysosome
Disease
H00057  Parkinson disease
H00126  Gaucher disease
H00127  Metachromatic leukodystrophy
H00135  Krabbe disease
H00423  Sphingolipidosis
H01239  Combined SAP deficiency
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
Reference
PMID:2060627
  Authors
Schnabel D, Schroder M, Sandhoff K
  Title
Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease.
  Journal
FEBS Lett 284:57-9 (1991)
DOI:10.1016/0014-5793(91)80760-z
Reference
  Authors
Spiegel R, Bach G, Sury V, Mengistu G, Meidan B, Shalev S, Shneor Y, Mandel H, Zeigler M
  Title
A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans.
  Journal
Mol Genet Metab 84:160-6 (2005)
DOI:10.1016/j.ymgme.2004.10.004
Reference
  Authors
Kuchar L, Ledvinova J, Hrebicek M, Myskova H, Dvorakova L, Berna L, Chrastina P, Asfaw B, Elleder M, Petermoller M, Mayrhofer H, Staudt M, Krageloh-Mann I, Paton BC, Harzer K
  Title
Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations.
  Journal
Am J Med Genet A 149A:613-21 (2009)
DOI:10.1002/ajmg.a.32712
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