ASAH1

ASAH1
Identifiers
Aliases	ASAH1, AC, ACDase, ASAH, PHP, PHP32, SMAPME, N-acylsphingosine amidohydrolase (acid ceramidase) 1, N-acylsphingosine amidohydrolase 1
External IDs	MGI: 1277124 HomoloGene: 10504 GeneCards: ASAH1
Gene ontology Molecular function • ceramidase activity • catalytic activity • hydrolase activity Cellular component • lysosome • lysosomal lumen • extracellular exosome • extracellular region • extracellular space • tertiary granule lumen • ficolin-1-rich granule lumen Biological process • glycosphingolipid metabolic process • ceramide metabolic process • lipid metabolic process • neutrophil degranulation Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	427	11886
Ensembl	ENSG00000104763	ENSMUSG00000031591
UniProt	Q13510	Q9WV54
RefSeq (mRNA)	NM_001127505 NM_004315 NM_177924	NM_019734
RefSeq (protein)	NP_001120977 NP_004306 NP_808592	NP_062708.1 NP_062708
Location (UCSC)	Chr 8: 18.06 – 18.08 Mb	Chr 8: 41.34 – 41.37 Mb
PubMed search

427

11886

ENSG00000104763

ENSMUSG00000031591

Q13510

Q9WV54

NM_001127505
NM_004315
NM_177924

NM_019734

NP_001120977
NP_004306
NP_808592

NP_062708.1
NP_062708

Acid ceramidase is an enzyme that in humans is encoded by the ASAH1 gene.

This gene encodes a heterodimeric protein consisting of a nonglycosylated alpha subunit and a glycosylated beta subunit that is cleaved to the mature enzyme posttranslationally. The encoded protein catalyzes the synthesis and degradation of ceramide into sphingosine and fatty acid. Mutations in this gene have been associated with a lysosomal storage disorder known as Farber disease and, recently, with a rare neurodegenerative condition known as spinal muscular atrophy with progressive myoclonic epilepsy. Two transcript variants encoding distinct isoforms have been identified for this gene. In melanocytic cells ASAH1 gene expression may be regulated by MITF.

...
Wikipedia