Aldolase B
| Aldolase B | ||
|---|---|---|
| other names |
|
|
| Properties of human protein | ||
| Mass / length primary structure | 364 amino acids, 39,473 Da | |
| Identifier | ||
| Gene name | ALDOB | |
| External IDs | ||
| Enzyme classification | ||
| EC, category | 4.1.2.13 | |
| Orthologue | ||
| human | House mouse | |
| Entrez | 229 | 230163 |
| Ensemble | ENSG00000136872 | ENSMUSG00000028307 |
| UniProt | P05062 | Q91Y97 |
| Refseq (mRNA) | NM_000035 | NM_144903 |
| Refseq (protein) | NP_000026 | NP_659152 |
| Gene locus | Chr 9: 101.42 - 101.45 Mb | Chr 4: 49.54 - 49.55 Mb |
| PubMed search | 229 |
230163
|
Aldolase B ( ALD-B , also called liver aldose or fructose-1-phosphate aldolase ) is an isoenzyme of aldolase that can catalyze the aldol cleavage of fructose-1,6-bisphosphate and fructose-1-phosphate . The metabolic products of aldolase B are processed in glycolysis or gluconeogenesis .
If there is a lack of aldolase B in the liver, kidneys or small intestine, fructose-1-phosphate accumulates rapidly and can lead to hereditary fructose intolerance .
structure
Aldolase B is a homotetramer of 4 β-subunits , predominantly in the liver expressed is. The molar mass of the tetramer is approx. 159 kDa .
Reactions
Clinical significance
If there is a deficiency in aldolase B, a diet high in fructose leads to the accumulation of fructose-1-phosphate, which can have possible consequences:
- Fructose-1-phosphate blocks the production of glucose by blocking gluconeogenesis and glycogenolysis , which can lead to hypoglycemia and is a symptom of hereditary fructose intolerance.
- ATP and orthophosphate (P i ) are excessively consumed, with the latter inhibiting protein synthesis and leading to ultrastructural lesions that can cause malfunctions in the liver or kidney.
- Inadequate glycosylation of proteins (e.g. transferrin ) due to the inhibition of mannose-6-phosphate isomerase .
The ALDOB gene is located on chromosome 9q22.3 . According to the Human Gene Mutation Database at the Institute of Medical Genetics in Cardiff , 25 mutations of the gene are known, 11 of which lead to hereditary fructose intolerance.
Individual evidence
- ^ Gerhard Meisenberg, William H. Simmons: Principles of Medical Biochemistry E-Book . Elsevier Health Sciences, 2011, ISBN 978-0-323-08107-8 , pp. 386 ( limited preview in Google Book Search).
- ↑ Robert M. Kliegman, Joseph St. Geme: Nelson Textbook of Pediatrics e-book . Elsevier Health Sciences, 2019, ISBN 978-0-323-56888-3 , pp. 790 ( limited preview in Google Book search).
- ↑ Axel M. Gressner, Torsten Arndt: Lexicon of Medical Laboratory Diagnostics . 3. Edition. Springer-Verlag, 2019, ISBN 978-3-662-48986-4 , pp. 62 ( limited preview in Google Book search).
- ^ A b G. Van den Berghe: Metabolic effects of fructose in the liver. In: Current topics in cellular regulation. Volume 13, 1978, pp. 97-135, doi: 10.1016 / b978-0-12-152813-3.50008-2 , PMID 208819 (review).
- ↑ J. Jaeken, M. Pirard, M. Adamowicz, E. Pronicka, E. van Schaftingen: Inhibition of phosphomannose isomerase by fructose 1-phosphate: an explanation for defective N-glycosylation in hereditary fructose intolerance. In: Pediatric research. Volume 40, Number 5, November 1996, pp. 764-766, doi: 10.1203 / 00006450-199611000-00017 , PMID 8910943 .
- ↑ HGMD (The Human Gene Mutation Database Cardiff) ( Memento of March 2, 2003 in the Internet Archive )