Fructose-bisphosphate aldolase B (ALDOB)
The protein contains 364 amino acids for an estimated molecular weight of 39473 Da.
No function (updated: Jan. 23, 2007)
Protein identification was indicated in the following studies:
Methods
The following articles were analysed to gather the proteome content of erythrocytes.
The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.
| Publication | Identification 1 | Uniprot mapping 2 | Not mapped / Obsolete | TrEMBL | Swiss-Prot |
|---|---|---|---|---|---|
| Goodman (2013) | 2289 (gene list) | 2278 | 53 | 20599 | 2269 |
| Lange (2014) | 1234 | 1234 | 7 | 28 | 1224 |
| Hegedus (2015) | 2638 | 2622 | 0 | 235 | 2387 |
| Wilson (2016) | 1658 | 1528 | 170 | 291 | 1068 |
| d'Alessandro (2017) | 1826 | 1817 | 2 | 0 | 1815 |
| Bryk (2017) | 2090 | 2060 | 10 | 108 | 1942 |
| Chu (2018) | 1853 | 1804 | 55 | 362 | 1387 |
1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry
The compilation of older studies can be retrieved from the Red Blood Cell Collection database.
The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.
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No binding partner found
Biological Process
Canonical glycolysis
Fructose 1,6-bisphosphate metabolic process
Fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate
Fructose metabolic process
Gluconeogenesis
Glycolytic process
NADH oxidation
Positive regulation of ATPase activity
Vacuolar proton-transporting V-type ATPase complex assembly
The reference OMIM entry for this protein is 229600
Fructose intolerance, hereditary
Fructosemia
Fructose-1-phosphate aldolase deficiency
Fructose-1,6-bisphosphate aldolase b deficiency
Aldolase b deficiency
Aldob deficiency
A number sign (#) is used with this entry because hereditary fructose intolerance is caused by mutation in the gene encoding aldolase B (ALDOB; 612724).
DESCRIPTION
Fructose intolerance becomes apparent in infancy at the time of weaning, when fructose or sucrose is added to the diet. Clinical features include recurrent vomiting, abdominal pain, and hypoglycemia that may be fatal. Long-term exposure to fructose can result in liver failure, renal tubulopathy, and growth retardation. Older patients who survive infancy develop a natural avoidance of sweets and fruits. Ali et al. (1998) provided a detailed review of the biochemical, genetic, and molecular basis of aldolase B deficiency in hereditary fructose intolerance.CLINICAL FEATURES
Chambers and Pratt (1956) first reported fructose intolerance in a 24-year-old woman who complained of nausea, abdominal pain, and faintness after ingesting sugar and fructose. She did not enjoy sweet tastes. The authors termed the phenomenon 'idiosyncrasy to fructose,' and postulated that some of the symptoms resulted from hypoglycemia (Ali et al., 1998). Perheentupa and Pitkanen (1962) reported a severely affected infant who had recurrent hypoglycemia and vomiting after weaning, when fructose or sucrose was added to the diet. The symptoms resulted in marked malnutrition. However, the patient's 3-year-old brother only developed hepatomegaly and hypoglycemic shock after an oral test dose of fructose. He was otherwise clinically healthy, but showed a marked aversion to sweets and fruit. Froesch et al. (1963) described 2 adults, aged 33 and 39 years, with fructose intolerance. In addition to the aversion to fructose-containing foods, both had a remarkable absence of dental caries. Swales and Smith (1966) described an affected 21-year-old man, and Kohlin and Melin (1968) reported adult cases. Mass et al. (1966) reported a patient with fructose intolerance who had developed renal tubular acidosis. It was unclear to the authors whether this was an independent disorder or a complication of the fructosemia. Perheentupa and Raivio (1967) discussed hyperuricemia in this disorder. Mandel et al. (1990) reported an infant with fructose intolerance in whom the diagnosis was delayed due to the finding of hemophagocytosis in the bone marrow. The authors noted that most, if not all, patients with fructose intolerance have neonatal hypoglycemia, lactic acidosis, and an abnormal fructose or glycerol loading test. Hypoglycemic attacks occur later in life and are associated with severe hyperuricemia and metabolic acidosis. Therapeutic measures include restriction of fructose intake and avoidance of prolonged fasting, particularly during febrile episodes. Ali et al. (1998) noted that infants with fructose intolerance can have a severe reaction, including lethargy, seizures, and coma, if large quantities of sugar are ingested. In addition, persistent intake can lead to chronic toxicity, including liver and kidney damage. Those who survive the early period without correct diagnosis develop a self-protective aversion to the harmful sugars. Esposito et al. (2010) reported 2 unrelated patients with fructose intolerance who were determined to be heterozygous for a mutation in the ALDOB gene. One patient with an R46W substitution (612724.0014) had mild hypoglycemia and ketosis after ingestion of fructose and a marked aversion to sweets and fruit. The second patient with a Y343H substitution (612724.0015) was hosp ... More on the omim web site
June 30, 2020: Protein entry updated
Automatic update: OMIM entry 229600 was added.
Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).