Gene
ALDH4A1
aldehyde dehydrogenase 4 family member A1
- HGNC 406↗(opens in a new tab)
- Ensembl gene ENSG00000159423↗(opens in a new tab)
- NCBI Gene 8659↗(opens in a new tab)
Summary
- Cytogenetic location
- 1p36.13
- Coordinates
- Chromosome 1: 18,871,430–18,902,555 (GRCh38)
- Exons
- 15 exons across 31.1 kb
- Protein
- 563 amino acids
- Also known as
- P5CDh
- Previous symbols
- ALDH4
- MANE Select transcript
- ENST00000375341.8NM_003748.4
- 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 ALDH4A1 yet. The test sequences your whole genome, so your data includes it all the same.
How ALDH4A1 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 3.1 kb of the gene's 31.1 kb; 1,692 of those bases code for the protein.
How a genome test reads ALDH4A1
25
positions in ALDH4A1 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 31.1 kb of ALDH4A1, introns included, not only the 3.1 kb of exons.
Traits linked to ALDH4A1
The Human Phenotype Ontology lists these as features of the rare conditions ALDH4A1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Abnormal cerebrospinal fluid morphology
- Behavioral abnormality
- Epilepsy
- Global developmental delay
- Intellectual disability
- Delayed speech and language development
- Difficulty sleeping
- EEG with generalized sharp slow waves
Show 21 more traits
- Generalized-onset seizure
- Unsteady walk
- Absent reflexes
- Aggressive behavior
- Anxiety
- Autism spectrum disorder
- Confusion
- Decreased sensation in extremities
- Depression
- Dysesthesia
- Early onset absence seizures
- Encephalopathy
- Febrile seizure (within the age range of 3 months to 6 years)
- Hallucinations
- Mild global developmental delay
- Peripheral neuropathy
- Psychotic mentation
- Repeated seizures without recovery between them
- Short attention span
- Speech articulation difficulties
- Sudden loss of muscle tone
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.). ALDH4A1 gene: aldehyde dehydrogenase 4 family member A1. Retrieved 16 October 2026, from https://dantelabs.com/genes/aldh4a1
Dante Labs. ALDH4A1 gene: aldehyde dehydrogenase 4 family member A1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/aldh4a1
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