Protein Name N-acylsphingosine amidohydrolase 1
Organism Homo sapiens
Gene ID 427
Gene Symbol

ASAH1

UniProt Q13510 (ASAH1_HUMAN), Q53H01 (Q53H01_HUMAN), A8K0B6 (A8K0B6_HUMAN)
Relationships Total Number of functionally related compound(s) : 194
Total Number of Articles : 187
Description

N-acylsphingosine amidohydrolase 1

Gene Summary

This gene 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. 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 are associated with the lysosomal storage disorder, Farber lipogranulomatosis, and a neuromuscular disorder, spinal muscular atrophy with progressive myoclonic epilepsy. [provided by RefSeq, Oct 2015]

synonyms
  • acid ceramidase
  • N-acylethanolamine hydrolase ASAH1
  • N-acylsphingosine amidohydrolase (acid ceramidase) 1
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Properties