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ASAH1

Chr 8p22

N-acylsphingosine amidohydrolase 1

Aliases:
AC, PHP32, FLJ21558, ACDase
MANE:
ENST00000637790.2
OMIM: 613468 ↗NCBI: 427 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal

  • Early onset or syndromic epilepsy

    BIALLELIC, autosomal or pseudoautosomal

  • Familial pulmonary fibrosis

    BIALLELIC, autosomal or pseudoautosomal

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

  • Fetal hydrops

    BIALLELIC, autosomal or pseudoautosomal

  • Hereditary neuropathy or pain disorder

    BIALLELIC, autosomal or pseudoautosomal

  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

  • Likely inborn error of metabolism

    BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

  • Farber lipogranulomatosis

    0.84

  • spinal muscular atrophy-progressive myoclonic epilepsy syndrome

    0.81

  • Hereditary myoclonus - progressive distal muscular atrophy

    0.76

  • ASAH1-related sphingolipidosis

    0.60

  • atrial fibrillation

    0.54

  • hydrops fetalis

    0.47

  • self-limited epilepsy with centrotemporal spikes

    0.45

  • Rolandic epilepsy

    0.45

  • hereditary disease

    0.42

  • alcohol drinking

    0.39

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Acid ceramidase

Lysosomal ceramidase that hydrolyzes sphingolipid ceramides into sphingosine and free fatty acids at acidic pH (PubMed:10610716, PubMed:11451951, PubMed:15655246, PubMed:26898341, PubMed:36752535, PubMed:7744740, PubMed:7852294). Ceramides, sphingosine, and its phosphorylated form sphingosine-1-phosphate are bioactive lipids that mediate cellular signaling pathways regulating several biological processes including cell proliferation, apoptosis and differentiation (PubMed:10610716). Has a higher catalytic efficiency towards C12-ceramides versus other ceramides (PubMed:15655246, PubMed:7744740). Also catalyzes the reverse reaction allowing the synthesis of ceramides from fatty acids and sphingosine (PubMed:12764132, PubMed:12815059). For the reverse synthetic reaction, the natural sphingosine D-erythro isomer is more efficiently utilized as a substrate compared to D-erythro-dihydrosphingosine and D-erythro-phytosphingosine, while the fatty acids with chain lengths of 12 or 14 carbons are the most efficiently used (PubMed:12764132). Also has an N-acylethanolamine hydrolase activity (PubMed:15655246). By regulating the levels of ceramides, sphingosine and sphingosine-1-phosphate in the epidermis, mediates the calcium-induced differentiation of epidermal keratinocytes (PubMed:17713573). Also indirectly regulates tumor necrosis factor/TNF-induced apoptosis (By similarity). By regulating the intracellular balance between ceramides and sphingosine, in adrenocortical cells, probably also acts as a regulator of steroidogenesis (PubMed:22261821)

Diseases associated with ASAH1

Curated MONDO disease pages that list ASAH1 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.