R411C mutation of the ALAS2 gene encodes a pyridoxine-responsive enzyme with low activity.
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Furuyama K, Uno R, Urabe A, Hayashi N, Fujita H, Kondo M, Sassa S, Yamamoto M
R411C mutation of the ALAS2 gene encodes a pyridoxine-responsive enzyme with low activity.
Br J Haematol. 1998 Dec;103(3):839-41.
- PubMed ID
- 9858242 [ View in PubMed]
- Abstract
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.