Title : ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study.

Pub. Date : 2016 Nov

PMID : 27026573






1 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 ASAH1 gene encodes for acid ceramidase that is involved in the degradation of ceramide into sphingosine and free fatty acids within lysosomes. Fatty Acids, Nonesterified N-acylsphingosine amidohydrolase 1 Homo sapiens