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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

ALDOB  -  aldolase B, fructose-bisphosphate

Homo sapiens

Synonyms: ALDB, ALDO2, Fructose-bisphosphate aldolase B, Liver-type aldolase
 
 
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Disease relevance of ALDOB

 

High impact information on ALDOB

  • Our results provide evidence for the assignment of the gene for ALDB to chromosome 9 [2].
  • We used a cloned cDNA probe for the B subunit of human aldolase (ALDB) and Southern blotting techniques to analyse DNA from a series of rodent X human somatic cell hybrids for the presence of specific ALDB-related sequences [2].
  • The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe [3].
  • By mutation screening for the three most common ALDOB mutations by DHPLC in 2,000 randomly selected newborns we detected 21 heterozygotes [3].

References

  1. Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene. Esposito, G., Santamaria, R., Vitagliano, L., Ieno, L., Viola, A., Fiori, L., Parenti, G., Zancan, L., Zagari, A., Salvatore, F. Hum. Mutat. (2004) [Pubmed]
  2. The structural gene for aldolase B (ALDB) maps to 9q13----32. Henry, I., Gallano, P., Besmond, C., Weil, D., Mattei, M.G., Turleau, C., Boué, J., Kahn, A., Junien, C. Ann. Hum. Genet. (1985) [Pubmed]
  3. The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. Santer, R., Rischewski, J., von Weihe, M., Niederhaus, M., Schneppenheim, S., Baerlocher, K., Kohlschütter, A., Muntau, A., Posselt, H.G., Steinmann, B., Schneppenheim, R. Hum. Mutat. (2005) [Pubmed]
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