TY - JOUR
T1 - R411C mutation of the ALAS2 gene encodes a pyridoxine-responsive enzyme with low activity
AU - Furuyama, Kazumichi
AU - Uno, Ritsuko
AU - Urabe, Akio
AU - Hayashi, Norio
AU - Fujita, Hiroyoshi
AU - Kondo, Masao
AU - Sassa, Shigeru
AU - Yamamoto, Masayuki
PY - 1998
Y1 - 1998
N2 - 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.
AB - 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.
KW - δ-aminolaevulinate synthase (E.C.2.3.1.37)
KW - ALAS2
KW - Pyridoxine
KW - Sideroblastic anaemia
UR - http://www.scopus.com/inward/record.url?scp=0031758682&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0031758682&partnerID=8YFLogxK
U2 - 10.1046/j.1365-2141.1998.01050.x
DO - 10.1046/j.1365-2141.1998.01050.x
M3 - Article
C2 - 9858242
AN - SCOPUS:0031758682
SN - 0007-1048
VL - 103
SP - 839
EP - 841
JO - British Journal of Haematology
JF - British Journal of Haematology
IS - 3
ER -