Rahul Sharma

ASAH1

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Species  Human
Entrez  427
Human  Mouse
Ensembl  ENSG00000104763
ASAH1
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

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.

References

ASAH1 Wikipedia


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