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

Kazumichi Furuyama, Ritsuko Uno, Akio Urabe, Norio Hayashi, Hiroyoshi Fujita, Masao Kondo, Shigeru Sassa, Masayuki Yamamoto

研究成果: Article査読

16 被引用数 (Scopus)

抄録

A R411C missense mutation of the erythroid-specific δ-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.

本文言語English
ページ(範囲)839-841
ページ数3
ジャーナルBritish Journal of Haematology
103
3
DOI
出版ステータスPublished - 1998
外部発表はい

ASJC Scopus subject areas

  • 血液学

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