Gene
ALDOB
aldolase, fructose-bisphosphate B
- HGNC 417↗(opens in a new tab)
- Ensembl gene ENSG00000136872↗(opens in a new tab)
- NCBI Gene 229↗(opens in a new tab)
Summary
- Cytogenetic location
- 9q31.1
- Coordinates
- Chromosome 9: 101,420,560–101,435,774 (GRCh38)
- Exons
- 9 exons across 15.2 kb
- Protein
- 364 amino acids
- Inheritance
- Autosomal recessive
- MANE Select transcript
- ENST00000647789.2NM_000035.4
- 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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Hereditary Fructose Intolerance & Gluconeogenesis Defects
- Hereditary Fructose IntoleranceAutosomal recessive
Caused by variants in ALDOB; eating fructose, sucrose or sorbitol can cause low blood sugar, vomiting and liver and kidney damage.
- ClinGen rates the link definitive
- 7 GenCC submitters rate it definitive or strong
What knowing changes
Knowing allows strict avoidance of fructose, sucrose and sorbitol, including in medicines and intravenous fluids, which prevents harm.
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How ALDOB 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 2.4 kb of the gene's 15.2 kb; 1,095 of those bases code for the protein.
How a genome test reads ALDOB
98
positions in ALDOB 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 15.2 kb of ALDOB, introns included, not only the 2.4 kb of exons.
Traits linked to ALDOB
The Human Phenotype Ontology lists these as features of the rare conditions ALDOB can cause. Each trait's page lists the other genes linked to it.
Laboratory abnormality
- Reduced circulating aldolase concentration
- High blood magnesium levels
- High blood uric acid level
- Low blood phosphate level
- Low blood sugar after a meal
- Metabolic acidosis
- Bicarbonaturia
- Fatty infiltration of liver
Show 11 more traits
Abnormality of the digestive system
- Abdominal pain
- Diarrhea
- Nausea
- Abdominal bloating
- Chronic liver failure
- Constipation
- Enlarged liver
- Jaundice
Show 3 more traits
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.). ALDOB gene: aldolase, fructose-bisphosphate B. Retrieved 16 October 2026, from https://dantelabs.com/genes/aldob
Dante Labs. ALDOB gene: aldolase, fructose-bisphosphate B [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/aldob
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