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

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)839-841
Number of pages3
JournalBritish Journal of Haematology
Volume103
Issue number3
DOIs
Publication statusPublished - 1998 Dec 10
Externally publishedYes

Keywords

  • ALAS2
  • Pyridoxine
  • Sideroblastic anaemia
  • δ-aminolaevulinate synthase (E.C.2.3.1.37)

ASJC Scopus subject areas

  • Hematology

Fingerprint Dive into the research topics of 'R411C mutation of the ALAS2 gene encodes a pyridoxine-responsive enzyme with low activity'. Together they form a unique fingerprint.

  • Cite this