Aldolase B
From Wikipedia, the free encyclopedia
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Aldolase B, fructose-bisphosphate
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| PDB rendering based on 1fdj. | ||||||||||||||
| Available structures: 1fdj, 1qo5, 1xdl, 1xdm | ||||||||||||||
| Identifiers | ||||||||||||||
| Symbol(s) | ALDOB; | |||||||||||||
| External IDs | OMIM: 229600 MGI: 87995 HomoloGene: 20060 | |||||||||||||
| EC number | 4.1.2.13 | |||||||||||||
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| RNA expression pattern | ||||||||||||||
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| Orthologs | ||||||||||||||
| Human | Mouse | |||||||||||||
| Entrez | 229 | 230163 | ||||||||||||
| Ensembl | ENSG00000136872 | ENSMUSG00000028307 | ||||||||||||
| Uniprot | P05062 | Q3TJ66 | ||||||||||||
| Refseq | NM_000035 (mRNA) NP_000026 (protein) |
NM_144903 (mRNA) NP_659152 (protein) |
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| Location | Chr 9: 103.22 - 103.24 Mb | Chr 4: 49.56 - 49.57 Mb | ||||||||||||
| Pubmed search | [1] | [2] | ||||||||||||
Aldolase B is an isoenzyme of fructose 1,6-bisphosphate aldolase (aldolase A), which is also capable of cleaving fructose 1-phosphate to form glyceraldehyde and dihydroxyacetone phosphate (DHAP). The reaction is reversible. Also known as Aldolase (Class II), it is found in the liver and kidney.
Aldolase B, fructose-bisphosphate, also known as ALDOB, is a human gene.[1]
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.[1]
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[edit] Pathology
Defects of aldolase B cause fructose 1-phosphate to accumulate in tissues which contain fructokinase, a condition known as hereditary fructose intolerance.
[edit] References
[edit] Further reading
- Tolan DR (1996). "Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B gene.". Hum. Mutat. 6 (3): 210–8. doi:. PMID 8535439.
- Cross NC, de Franchis R, Sebastio G, et al. (1990). "Molecular analysis of aldolase B genes in hereditary fructose intolerance.". Lancet 335 (8685): 306–9. PMID 1967768.
- Cross NC, Stojanov LM, Cox TM (1990). "A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia.". Nucleic Acids Res. 18 (7): 1925. PMID 2336380.
- Sakakibara M, Mukai T, Yatsuki H, Hori K (1985). "Human aldolase isozyme gene: the structure of multispecies aldolase B mRNAs.". Nucleic Acids Res. 13 (14): 5055–69. PMID 2410860.
- Sakakibara M, Takahashi I, Takasaki Y, et al. (1989). "Construction and expression of human aldolase A and B expression plasmids in Escherichia coli host.". Biochim. Biophys. Acta 1007 (3): 334–42. PMID 2649152.
- Mukai T, Yatsuki H, Arai Y, et al. (1988). "Human aldolase B gene: characterization of the genomic aldolase B gene and analysis of sequences required for multiple polyadenylations.". J. Biochem. 102 (5): 1043–51. PMID 2830249.
- Henry I, Gallano P, Besmond C, et al. (1986). "The structural gene for aldolase B (ALDB) maps to 9q13----32.". Ann. Hum. Genet. 49 (Pt 3): 173–80. PMID 3000275.
- Tolan DR, Penhoet EE (1986). "Characterization of the human aldolase B gene.". Mol. Biol. Med. 3 (3): 245–64. PMID 3016456.
- Cross NC, Tolan DR, Cox TM (1988). "Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation.". Cell 53 (6): 881–5. PMID 3383242.
- Paolella G, Santamaria R, Izzo P, et al. (1984). "Isolation and nucleotide sequence of a full-length cDNA coding for aldolase B from human liver.". Nucleic Acids Res. 12 (19): 7401–10. PMID 6548561.
- Rottmann WH, Tolan DR, Penhoet EE (1984). "Complete amino acid sequence for human aldolase B derived from cDNA and genomic clones.". Proc. Natl. Acad. Sci. U.S.A. 81 (9): 2738–42. PMID 6585824.
- Besmond C, Dreyfus JC, Gregori C, et al. (1984). "Nucleotide sequence of a cDNA clone for human aldolase B.". Biochem. Biophys. Res. Commun. 117 (2): 601–9. PMID 6689266.
- Ali M, Cox TM (1995). "Diverse mutations in the aldolase B gene that underlie the prevalence of hereditary fructose intolerance.". Am. J. Hum. Genet. 56 (4): 1002–5. PMID 7717389.
- Ali M, Sebastio G, Cox TM (1994). "Identification of a novel mutation (Leu 256-->Pro) in the human aldolase B gene associated with hereditary fructose intolerance.". Hum. Mol. Genet. 3 (1): 203–4. PMID 8162030.
- Brooks CC, Tolan DR (1994). "A partially active mutant aldolase B from a patient with hereditary fructose intolerance.". FASEB J. 8 (1): 107–13. PMID 8299883.
- Kusakabe T, Motoki K, Hori K (1997). "Mode of interactions of human aldolase isozymes with cytoskeletons.". Arch. Biochem. Biophys. 344 (1): 184–93. doi:. PMID 9244396.
- Lau J, Tolan DR (1999). "Screening for hereditary fructose intolerance mutations by reverse dot-blot.". Mol. Cell. Probes 13 (1): 35–40. doi:. PMID 10024431.
- Santamaria R, Esposito G, Vitagliano L, et al. (2001). "Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human liver aldolase.". Biochem. J. 350 Pt 3: 823–8. PMID 10970798.
- Susan PP, Dunn WA (2001). "Starvation-induced lysosomal degradation of aldolase B requires glutamine 111 in a signal sequence for chaperone-mediated transport.". J. Cell. Physiol. 187 (1): 48–58. doi:. PMID 11241348.
[edit] External links
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