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Gene

ALDH7A1

aldehyde dehydrogenase 7 family member A1

Summary

Cytogenetic location
5q23.2
Coordinates
Chromosome 5: 126,541,841–126,595,219 (GRCh38)
Exons
18 exons across 53.4 kb
Protein
539 amino acids
Also known as
EPD, PDE
Previous symbols
ATQ1
MANE Select transcript
ENST00000409134.8NM_001182.5
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 report relevant to this gene

    • Epilepsy (Full Panel)

      • Epilepsy

        One of 171 genes linked to it

        A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.

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

    How ALDH7A1 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 5, with a bracket where ALDH7A1 sits. ALDH7A1 and 6 genes near it on chromosome 5, from 126,068,530 to 127,068,529.Chromosome 55q23.2p15.33p15.32p15.31p15.2p15.1p14.3p14.2p14.1p13.3p13.2p13.1p12p11q11.1q11.2q12.1q12.2q12.3q13.1q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q31.1q31.2q31.3q32q33.1q33.2q33.3q34q35.1q35.2q35.3126.2 Mb126.4 Mb126.6 Mb126.8 Mb127 MbGRAMD2B: 126,360,132–126,498,600, forward strandGRAMD2BALDH7A1: 126,541,841–126,595,219, reverse strandALDH7A1PHAX: 126,600,925–126,627,252, forward strandPHAXSPMIP10: 126,631,705–126,636,284, forward strandSPMIP10LMNB1: 126,776,623–126,837,242, forward strandLMNB1MARCHF3: 126,867,714–127,031,652, reverse strandMARCHF3C5orf63: 127,044,770–127,073,577, reverse strandC5orf63Diagram of ALDH7A1: 18 exons on the reverse strand of chromosome 5Exon 18: 3 known disease-causing sitesExon 17: 8 known disease-causing sitesExon 16: 8 known disease-causing sitesExon 15: 11 known disease-causing sitesExon 14: 8 known disease-causing sitesExon 13: 7 known disease-causing sitesExon 12: 5 known disease-causing sitesExon 11: 13 known disease-causing sitesExon 10: 4 known disease-causing sitesExon 9: 7 known disease-causing sitesExon 8: 1 known disease-causing siteExon 7: 3 known disease-causing sitesExon 6: 15 known disease-causing sitesExon 5: 6 known disease-causing sitesExon 4: 7 known disease-causing sitesExon 3: 3 known disease-causing sitesExon 2: 5 known disease-causing sitesExon 1: 9 known disease-causing sitesExon 18: 126,541,841–126,545,019, 3,179 basesExon 17: 126,546,324–126,546,399, 76 basesExon 16: 126,549,929–126,550,002, 74 basesExon 15: 126,550,196–126,550,293, 98 basesExon 14: 126,552,021–126,552,137, 117 basesExon 13: 126,554,287–126,554,393, 107 basesExon 12: 126,555,931–126,556,015, 85 basesExon 11: 126,559,240–126,559,334, 95 basesExon 10: 126,561,083–126,561,124, 42 basesExon 9: 126,568,259–126,568,356, 98 basesExon 8: 126,570,782–126,570,859, 78 basesExon 7: 126,575,420–126,575,464, 45 basesExon 6: 126,577,079–126,577,211, 133 basesExon 5: 126,582,851–126,582,974, 124 basesExon 4: 126,583,932–126,584,012, 81 basesExon 3: 126,592,664–126,592,729, 66 basesExon 2: 126,593,351–126,593,404, 54 basesExon 1: 126,595,007–126,595,219, 213 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 4.8 kb of the gene's 53.4 kb; 1,620 of those bases code for the protein.

    How a genome test reads ALDH7A1

    164

    positions in ALDH7A1 where ClinVar classes a change as pathogenic or likely pathogenic

    3 of them (1.8%) fall in regions short reads find hard.

    • Low mappability (3 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.

    A whole genome covers all 53.4 kb of ALDH7A1, introns included, not only the 4.8 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.). ALDH7A1 gene: aldehyde dehydrogenase 7 family member A1. Retrieved 17 October 2026, from https://dantelabs.com/genes/aldh7a1

    Vancouver

    Dante Labs. ALDH7A1 gene: aldehyde dehydrogenase 7 family member A1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/aldh7a1

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