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Gene

ASAH1

N-acylsphingosine amidohydrolase 1

Summary

Cytogenetic location
8p22
Coordinates
Chromosome 8: 18,055,992–18,084,107 (GRCh38)
Exons
14 exons across 28.1 kb
Protein
395 amino acids
Also known as
AC, PHP32, FLJ21558, ACDase
Previous symbols
ASAH
MANE Select transcript
ENST00000637790.2NM_177924.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Spinal Muscular Atrophy

    • A group of disorders characterised by degeneration of spinal cord anterior horn cells, leading to progressive muscle weakness and atrophy.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Gene therapy (onasemnogene abeparvovec), antisense oligonucleotide therapy (nusinersen), oral splicing modifier (risdiplam), supportive care

Broader groupings

  • Lysosomal Storage Disease

    • Lysosomal storage disease (other and unspecified types)

      One of 59 genes linked to it

      Covers lysosomal storage diseases without a dedicated report, such as Farber disease and other ASAH1-related disorders, prosaposin (PSAP) deficiencies, multiple sulfatase deficiency, mucopolysaccharidosis types IX and X, and Dorfman-Chanarin disease; inheritance varies by subtype, most often autosomal recessive.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong

How ASAH1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 8, with a bracket where ASAH1 sits. ASAH1 and 8 genes near it on chromosome 8, from 17,570,050 to 18,570,049.Chromosome 88p22p23.3p23.2p23.1p22p21.3p21.2p21.1p12p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.3q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.317.6 Mb17.8 Mb18 Mb18.2 Mb18.4 MbSLC7A2: 17,496,975–17,570,573, forward strandSLC7A2PDGFRL: 17,576,433–17,644,071, forward strandPDGFRLMTUS1: 17,643,303–17,801,545, reverse strandMTUS1FGL1: 17,841,833–17,910,383, reverse strandFGL1PCM1: 17,922,746–18,029,996, forward strandPCM1ASAH1: 18,055,992–18,084,107, reverse strandASAH1NAT1: 18,170,399–18,223,746, forward strandNAT1NAT2: 18,391,247–18,401,220, forward strandNAT2PSD3: 18,527,303–19,084,730, reverse strandPSD3Diagram of ASAH1: 14 exons on the reverse strand of chromosome 8Exon 14: 2 known disease-causing sitesExon 13: 3 known disease-causing sitesExon 12: 3 known disease-causing sitesExon 11: 4 known disease-causing sitesExon 10: 3 known disease-causing sitesExon 9: 1 known disease-causing siteExon 8: 5 known disease-causing sitesExon 7: 1 known disease-causing siteExon 6: 6 known disease-causing sitesExon 5: 2 known disease-causing sitesExon 4: 4 known disease-causing sitesExon 3: 6 known disease-causing sitesExon 2: 5 known disease-causing sitesExon 1: 2 known disease-causing sitesExon 14: 18,055,992–18,057,623, 1,632 basesExon 13: 18,058,835–18,058,891, 57 basesExon 12: 18,059,341–18,059,464, 124 basesExon 11: 18,059,572–18,059,703, 132 basesExon 10: 18,061,377–18,061,458, 82 basesExon 9: 18,061,686–18,061,740, 55 basesExon 8: 18,062,279–18,062,423, 145 basesExon 7: 18,063,185–18,063,230, 46 basesExon 6: 18,064,457–18,064,531, 75 basesExon 5: 18,067,220–18,067,298, 79 basesExon 4: 18,069,792–18,069,878, 87 basesExon 3: 18,071,300–18,071,390, 91 basesExon 2: 18,075,541–18,075,587, 47 basesExon 1: 18,083,981–18,084,107, 127 bases141210864215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 2.8 kb of the gene's 28.1 kb; 1,188 of those bases code for the protein.

How a genome test reads ASAH1

58

positions in ASAH1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 28.1 kb of ASAH1, introns included, not only the 2.8 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). ASAH1 gene: N-acylsphingosine amidohydrolase 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/asah1

Vancouver

Dante Labs. ASAH1 gene: N-acylsphingosine amidohydrolase 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/asah1

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