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Gene

ALDH18A1

aldehyde dehydrogenase 18 family member A1

Summary

Cytogenetic location
10q24.1
Coordinates
Chromosome 10: 95,605,941–95,656,711 (GRCh38)
Exons
18 exons across 50.8 kb
Protein
795 amino acids
Also known as
P5CS
Previous symbols
GSAS, PYCS, SPG9
MANE Select transcript
ENST00000371224.7NM_002860.4
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

  • Cutis Laxa

    • Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity.

      • 4 GenCC submitters rate it definitive or strong

Broader groupings

  • Hereditary Spastic Paraplegia

    • Hereditary Spastic Paraplegia (All Types)

      One of 66 genes linked to it

      Umbrella term covering all hereditary spastic paraplegias, including SPG4 (SPAST), the most common dominant form, and SPG5A, SPG6, SPG10, SPG18, SPG30 and SPG31.

      • 3 GenCC submitters rate it definitive or strong

How ALDH18A1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 10, with a bracket where ALDH18A1 sits. ALDH18A1 and 9 genes near it on chromosome 10, from 95,131,326 to 96,131,325.Chromosome 1010q24.1p15.3p15.2p15.1p14p13p12.33p12.32p12.31p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.31q23.32q23.33q24.1q24.2q24.31q24.32q24.33q25.1q25.2q25.3q26.11q26.12q26.13q26.2q26.395.2 Mb95.4 Mb95.6 Mb95.8 Mb96 MbACSM6: 95,194,200–95,228,929, forward strandACSM6PDLIM1: 95,237,569–95,291,126, reverse strandPDLIM1SORBS1: 95,311,390–95,561,469, reverse strandSORBS1ALDH18A1: 95,605,941–95,656,711, reverse strandALDH18A1TCTN3: 95,659,823–95,694,143, reverse strandTCTN3ENTPD1: 95,711,752–95,901,433, forward strandENTPD1: 95,860,548–95,924,844, forward strandCC2D2B: 95,907,603–96,033,745, forward strandCC2D2BCCNJ: 96,043,053–96,060,870, forward strandCCNJZNF518A: 96,129,695–96,205,288, forward strandZNF518ADiagram of ALDH18A1: 18 exons on the reverse strand of chromosome 10Exon 18: 5 known disease-causing sitesExon 17: 3 known disease-causing sitesExon 16: 2 known disease-causing sitesExon 15: 1 known disease-causing siteExon 14: 3 known disease-causing sitesExon 13: 3 known disease-causing sitesExon 12: 4 known disease-causing sitesExon 11: 1 known disease-causing siteExon 10: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 7: 4 known disease-causing sitesExon 6: 2 known disease-causing sitesExon 5: 4 known disease-causing sitesExon 4: 9 known disease-causing sitesExon 3: 4 known disease-causing sitesExon 18: 95,605,941–95,606,943, 1,003 basesExon 17: 95,610,197–95,610,292, 96 basesExon 16: 95,611,256–95,611,442, 187 basesExon 15: 95,613,742–95,613,863, 122 basesExon 14: 95,613,966–95,614,161, 196 basesExon 13: 95,616,477–95,616,614, 138 basesExon 12: 95,621,031–95,621,251, 221 basesExon 11: 95,625,362–95,625,455, 94 basesExon 10: 95,626,703–95,626,776, 74 basesExon 9: 95,627,442–95,627,586, 145 basesExon 8: 95,628,368–95,628,492, 125 basesExon 7: 95,632,959–95,633,049, 91 basesExon 6: 95,633,491–95,633,649, 159 basesExon 5: 95,637,093–95,637,197, 105 basesExon 4: 95,637,287–95,637,436, 150 basesExon 3: 95,642,992–95,643,206, 215 basesExon 2: 95,653,290–95,653,405, 116 basesExon 1: 95,656,597–95,656,711, 115 bases1816141210864215′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 3.4 kb of the gene's 50.8 kb; 2,388 of those bases code for the protein.

How a genome test reads ALDH18A1

55

positions in ALDH18A1 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 50.8 kb of ALDH18A1, introns included, not only the 3.4 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.). ALDH18A1 gene: aldehyde dehydrogenase 18 family member A1. Retrieved 17 October 2026, from https://dantelabs.com/genes/aldh18a1

Vancouver

Dante Labs. ALDH18A1 gene: aldehyde dehydrogenase 18 family member A1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/aldh18a1

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