Gene
ADH5
alcohol dehydrogenase 5 (class III), chi polypeptide
- HGNC 253↗(opens in a new tab)
- Ensembl gene ENSG00000197894↗(opens in a new tab)
- NCBI Gene 128↗(opens in a new tab)
Summary
- Cytogenetic location
- 4q23
- Coordinates
- Chromosome 4: 99,070,978–99,088,788 (GRCh38)
- Exons
- 9 exons across 17.8 kb
- Protein
- 374 amino acids
- Also known as
- ADH-3, ADHX, GSNOR
- Previous symbols
- FDH
- MANE Select transcript
- ENST00000296412.14NM_000671.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
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Get my Genome TestCurated report relevant to this gene
Rare Inherited Bone Marrow Failure Syndromes
- Bone Marrow Failure Syndrome
A group of rare conditions linked to genes such as DNAJC21, MYSM1 and SRP72, and to combined ADH5 and ALDH2 deficiency (AMED syndrome), causing low blood counts, sometimes with developmental or other features.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
A diagnosis informs the choice of related stem cell donors and transplant preparation, and supports monitoring for myelodysplastic syndrome and leukaemia.
How ADH5 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 2.7 kb of the gene's 17.8 kb; 1,125 of those bases code for the protein.
How a genome test reads ADH5
2
positions in ADH5 where ClinVar classes a change as pathogenic or likely pathogenic
1 of them (50%) falls in a region short reads find hard.
- Low mappability (1 site)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
A whole genome covers all 17.8 kb of ADH5, introns included, not only the 2.7 kb of exons.
Genes linked to the same conditions
Traits linked to ADH5
The Human Phenotype Ontology lists these as features of the rare conditions ADH5 can cause. Each trait's page lists the other genes linked to it.
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.
- 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
Dante Labs. (n.d.). ADH5 gene: alcohol dehydrogenase 5 (class III), chi polypeptide. Retrieved 17 October 2026, from https://dantelabs.com/genes/adh5
Dante Labs. ADH5 gene: alcohol dehydrogenase 5 (class III), chi polypeptide [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/adh5
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