Home > Gene Browser > ALDOB

ALDOB

Synonyms
ALDB, ALDO2
External resources
Summary
Fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) is a tetrameric glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Vertebrates have 3 aldolase isozymes which are distinguished by their electrophoretic and catalytic properties. Differences indicate that aldolases A, B, and C are distinct proteins, the products of a family of related 'housekeeping' genes exhibiting developmentally regulated expression of the different isozymes. The developing embryo produces aldolase A, which is produced in even greater amounts in adult muscle where it can be as much as 5% of total cellular protein. In adult liver, kidney and intestine, aldolase A expression is repressed and aldolase B is produced. In brain and other nervous tissue, aldolase A and C are expressed about equally. There is a high degree of homology between aldolase A and C. Defects in ALDOB cause hereditary fructose intolerance.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
19
Likely pathogenic
16
VUS
867
Likely benign
644
Benign
1,059

Patient Phenotypes

Proportions of phenotypes among 31 patients carrying pathogenic or likely pathogenic variants on ALDOB gene are displayed below. The following symptoms were found in patients with a variant in ALDOB. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
35.5%
Abnormality of the nervous system
25.8%
Abnormality of the musculoskeletal system
22.6%
Abnormality of the genitourinary system
16.1%
Abnormality of head or neck
12.9%
Abnormality of the integument
12.9%
Abnormality of the cardiovascular system
9.7%
Abnormality of blood and blood forming tissues
6.5%
Abnormality of limbs
6.5%
Abnormality of prenatal development or birth
6.5%
Abnormality of the ear
6.5%
Abnormality of the immune system
6.5%
Abnormality of metabolism homeostasis
3.2%
Abnormality of the digestive system
3.2%
Constitutional symptom
3.2%
Growth abnormality
3.2%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes.