Gene
ALDH5A1
aldehyde dehydrogenase 5 family member A1
- HGNC 408↗(opens in a new tab)
- Ensembl gene ENSG00000112294↗(opens in a new tab)
- NCBI Gene 7915↗(opens in a new tab)
Summary
- Cytogenetic location
- 6p22.3
- Coordinates
- Chromosome 6: 24,494,969–24,537,207 (GRCh38)
- Exons
- 10 exons across 42.2 kb
- Protein
- 535 amino acids
- Also known as
- SSADH, SSDH
- MANE Select transcript
- ENST00000357578.8NM_001080.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads ALDH5A1 yet. The test sequences your whole genome, so your data includes it all the same.
How ALDH5A1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
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 5.1 kb of the gene's 42.2 kb; 1,608 of those bases code for the protein.
How a genome test reads ALDH5A1
130
positions in ALDH5A1 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 42.2 kb of ALDH5A1, introns included, not only the 5.1 kb of exons.
Traits linked to ALDH5A1
The Human Phenotype Ontology lists these as features of the rare conditions ALDH5A1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Global developmental delay
- Ataxia
- Delayed speech and language development
- Intellectual disability
- Behavioral abnormality
- Decreased reflex response
- Epilepsy
- Generalized myoclonic seizure
Show 15 more traits
Laboratory abnormality
- Laboratory abnormality
- Decreased tissue succinic semialdehyde dehydrogenase activity
- Elevated circulating 4-hydroxybutyric acid concentration
- Elevated circulating GABA concentration
- Elevated CSF 4-hydroxybutyric acid concentration
- Elevated CSF gamma-aminobutyric acid concentration
- Elevated urinary 3,4-Dihydroxybutyric acid level
- Elevated urinary 4-hydroxybutyric acid
Show 1 more trait
External links
Gene records
Transcript
Protein
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.
- 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
Dante Labs. (n.d.). ALDH5A1 gene: aldehyde dehydrogenase 5 family member A1. Retrieved 17 October 2026, from https://dantelabs.com/genes/aldh5a1
Dante Labs. ALDH5A1 gene: aldehyde dehydrogenase 5 family member A1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/aldh5a1
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