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1: Br J Haematol. 1998 Dec;103(3):839-41.Click here to read Links

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.

Department of Biochemistry, Tohoku University School of Medicine, Sendai, Japan.

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.

PMID: 9858242 [PubMed - indexed for MEDLINE]

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