KEGG   NETWORK: N00651
Entry
N00651                      Network                                

Name
ASAH1 deficiency in sphingolipid degradation
Definition
Ceramide -- ASAH1*
  Expanded
C00195 -- 427v1
Class
nt06014 Sphingolipid degradation
Type
Variant
Disease
H00423  Sphingolipidosis
H00138  Farber lipogranulomatosis
Gene
427  ASAH1; N-acylsphingosine amidohydrolase 1
Variant
427v1 (ASAH1*)  ASAH1 deficiency
Metabolite
C00195  N-Acylsphingosine
Reference
PMID:8955159
  Authors
Koch J, Gartner S, Li CM, Quintern LE, Bernardo K, Levran O, Schnabel D, Desnick RJ, Schuchman EH, Sandhoff K
  Title
Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber disease.
  Journal
J Biol Chem 271:33110-5 (1996)
DOI:10.1074/jbc.271.51.33110

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