KEGG   VARIANT: 427v1
Entry
427v1                      Variant                                 
Name
ASAH1 deficiency
Gene
ASAH1  N-acylsphingosine amidohydrolase 1 [KO:K12348]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 613468
Disease
H00138  Farber lipogranulomatosis
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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