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

rs7508 in ASAH1 gene and Atrial Fibrillation PMID 29892015 2018 Multi-ethnic genome-wide association study for atrial fibrillation.

PMID 30061737 2018 Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.

PMID 28416818 2017 Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation.

rs137853593 in ASAH1 gene and Farber Lipogranulomatosis PMID 20609603 2011 Farber lipogranulomatosis type 1--late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation.

PMID 26945816 2016 Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease.

PMID 16951918 2006 Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family.

PMID 12638942 2002 Mutation analysis of the acid ceramidase gene in Japanese patients with Farber disease.

PMID 21893389 2012 Novel V97G ASAH1 mutation found in Farber disease patients: unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous system.

PMID 11241842 2001 Molecular analysis of acid ceramidase deficiency in patients with Farber disease.

PMID 10993717 2000 Human acid ceramidase gene: novel mutations in Farber disease.

PMID 21982811 2012 A novel mutation in an atypical presentation of the rare infantile Farber disease.

PMID 10610716 1999 The human acid ceramidase gene (ASAH): structure, chromosomal location, mutation analysis, and expression.

PMID 27411168 2016 Atypical presentation of infantile-onset farber disease with novel ASAH1 mutations.

PMID 8955159 1996 A homoallelic point mutation (T222K) was also identified in the AC gene of a patient suffering from Farber disease, further confirming the authenticity of the full-length cDNA.

PMID 8955159 1996 Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber disease.

PMID 24164096 2014 Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy.

PMID 23707712 2013 Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: identification of the first large deletion in ASAH1 gene.

rs145873635 in ASAH1 gene and Jankovic Rivera syndrome PMID 27026573 2016 ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study.

PMID 22703880 2012 Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1.

PMID 24164096 2014 Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy.

rs368345612 in ASAH1 gene and KELOID FORMATION PMID 28905881 2017 Identification of ASAH1 as a susceptibility gene for familial keloids.