N-Acylsphingosine Amidohydrolase 1

Alternative Names

  • ASAH1
  • ASAH
  • N-Acylsphingosine Deacylase
  • Acid Ceramidase
  • AC
  • Acid CDase
  • ACDase

Associated Diseases

Farber Lipogranulomatosis
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OMIM Number

613468

NCBI Gene ID

427

Uniprot ID

Q13510

Length

29,007 bases

No. of Exons

17

No. of isoforms

3

Protein Name

Acid Ceramidase

Molecular Mass

44660 Da

Amino Acid Count

395

Genomic Location

chr8:18,055,991-18,084,960

Gene Map Locus
8p22

Description

The gene ASAH1 encodes the enzyme N-acylsphingosine amidohydrolase or acid ceramidase, which catalyzes the synthesis and degradation of ceramide into sphingosine and fatty acids within lysosomes. The resulting sphingosine undergoes phosphorylation to generate sphingosine-1-phosphate (S1P). Ceramide, sphingosine, and S1P are bioactive lipids that are involved in numerous cellular processes including cell growth arrest, differentiation, stress responses and apoptosis. Upon translation, a heterodimeric protein consisting of a nonglycosylated alpha subunit and a glycosylated beta subunit is produced. This protein undergoes posttranslational cleavage giving rise to the mature enzyme. A number of transcript variants encoding several distinct isoforms have been identified.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_177924.5:c.1096A>CUnited Arab EmiratesNC_000008.11:g.18058837T>GLikely PathogenicPathogenicFarber LipogranulomatosisNG_008985.2:g.31162A>C; NM_177924.5:c.1096A>C; NP_808592.2:p.Lys366Gln1588973202812479
NM_177924.5:c.290T>GSaudi Arabiachr8:18069805Likely PathogenicLikely PathogenicFarber LipogranulomatosisNG_008985.2:g.20194T>G; NM_177924.5:c.290T>G; NP_808592.2:p.Val97Gly1588989964812472
NM_177924.5:c.505T>CUnited Arab EmiratesNC_000008.11:g.18062422A>GLikely Pathogenic, PathogenicLikely PathogenicFarber LipogranulomatosisNG_008985.2:g.27577T>C; NM_177924.5:c.505T>C; NP_808592.2:p.Trp169Arg756455049191340
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