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

R411C mutation of the ALAS2 gene encodes a pyridoxine-responsive enzyme with low activity.

A R411C missense mutation of the erythroid-specific delta-aminolaevulinate synthase (ALAS2) gene was identified in a pedigree with X-linked pyridoxine-responsive sideroblastic anaemia (XLSA). The normal and the mutant cDNAs were expressed in E. coli, and the enzyme protein was purified. ALAS activity of the mutant enzyme was 12% and 25%, when incubated in the absence and the presence of pyridoxal 5'-phosphate, respectively, compared with that of the wild-type enzyme. These findings suggest that the R411C mutation accounts for low ALAS activity and a partial pyridoxine-responsiveness of the disease in the patient.[1]

References

  1. R411C mutation of the ALAS2 gene encodes a pyridoxine-responsive enzyme with low activity. Furuyama, K., Uno, R., Urabe, A., Hayashi, N., Fujita, H., Kondo, M., Sassa, S., Yamamoto, M. Br. J. Haematol. (1998) [Pubmed]
 
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