Gene
ALDH6A1
aldehyde dehydrogenase 6 family member A1
- HGNC 7179↗(opens in a new tab)
- Ensembl gene ENSG00000119711↗(opens in a new tab)
- NCBI Gene 4329↗(opens in a new tab)
Summary
- Cytogenetic location
- 14q24.3
- Coordinates
- Chromosome 14: 74,056,847–74,084,453 (GRCh38)
- Exons
- 12 exons across 27.6 kb
- Protein
- 535 amino acids
- Previous symbols
- MMSDH
- MANE Select transcript
- ENST00000553458.6NM_005589.4
- 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 ALDH6A1 yet. The test sequences your whole genome, so your data includes it all the same.
How ALDH6A1 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 5.5 kb of the gene's 27.6 kb; 1,608 of those bases code for the protein.
How a genome test reads ALDH6A1
2
positions in ALDH6A1 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 27.6 kb of ALDH6A1, introns included, not only the 5.5 kb of exons.
Traits linked to ALDH6A1
The Human Phenotype Ontology lists these as features of the rare conditions ALDH6A1 can cause. Each trait's page lists the other genes linked to it.
Laboratory abnormality
- Beta-alaninuria
- Elevated urinary 3-aminoisobutyric acid
- Elevated urinary 3-hydroxybutyric acid
- Elevated urinary 3-hydroxyisobutyric acid level
- Higher than normal levels of lactate in blood
- Methylmalonic acidemia
- Methylmalonic aciduria
- Reduced methylmalonate semialdehyde dehydrogenase activity in cultured fibroblasts
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.). ALDH6A1 gene: aldehyde dehydrogenase 6 family member A1. Retrieved 17 October 2026, from https://dantelabs.com/genes/aldh6a1
Dante Labs. ALDH6A1 gene: aldehyde dehydrogenase 6 family member A1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/aldh6a1
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