Gene: ASAH1

Alternate names for this Gene: AC|ACDase|ASAH|PHP|PHP32|SMAPME

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.

Gene is located in Chromosome: 8

Location in Chromosome : 8p22

Description of this Gene: N-acylsphingosine amidohydrolase 1

Type of Gene: protein-coding

Gene: LOC101929066

Alternate names for this Gene: -

Gene Summary:

Gene is located in Chromosome: 8

Location in Chromosome : 8p22

Description of this Gene: uncharacterized LOC101929066

Type of Gene: ncRNA

rs147896487 in ASAH1;LOC101929066 gene and Epilepsy, Rolandic PMID 29358611 2018 Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.