ASAH1 Proteins

Protein Information

ASAH1 encodes a member of the acid ceramidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. The processing of this preproprotein generates alpha and beta subunits that heterodimerize to form the mature lysosomal enzyme, which catalyzes the degradation of ceramide into sphingosine and free fatty acid. This enzyme is overexpressed in multiple human cancers and may play a role in cancer progression. Mutations in this gene have been linked to the lysosomal storage disorder, Farber lipogranulomatosis, and a neuromuscular disorder, spinal muscular atrophy with progressive myoclonic epilepsy. The related pathways include Innate Immune System and Sphingolipid metabolism. Diseases associated with ASAH1 include Farber Lipogranulomatosis and Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy.

Synonyms

2310081N20Rik; AC; ACDase; acid CDase; acid ceramidase; Acid ceramidase subunit alpha; Acid ceramidase subunit beta; Acylsphingosine deacylase; Asah; ASAH1; HSD33; HSD-33; N-acylethanolamine hydrolase ASAH1; N-acylsphingosine amidohydrolase; N-acylsphingosine amidohydrolase (acid ceramidase) 1; N-acylsphingosine amidohydrolase 1; PHP; PHP32; Putative 32 kDa heart protein; SMAPME