Asah1 (N-acylsphingosine amidohydrolase 1)

基因基本信息

Asah1 基因表型（MGI）

Nullizygous mutation of this gene causes embryonic lethality. Homozygotes for the p.P361R mutation die prematurely with growth defects, low acid ceramidase activity, high ceramide levels, histiocyte infiltrates into various organs, Farber bodies, short femur growth plates and altered ovary morphology. Mice carrying a neo-removed p.P361R allele present with spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) phenotypes.

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