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Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency

✍ Scribed by Xue Yang; Yoko Aoki; Xue Li; Osamu Sakamoto; Masahiro Hiratsuka; Shigeo Kure; Sepidh Taheri; Ernst Christensen; Koji Inui; Mitsuru Kubota; Miki Ohira; Misao Ohki; Jun Kudoh; Kazuhiko Kawasaki; Kazunori Shibuya; Ai Shintani; Shuichi Asakawa; Shinsei Minoshima; Nobuyoshi Shimizu; Kuniaki Narisawa; Yoichi Matsubara; Yoichi Suzuki


Publisher
Springer
Year
2001
Tongue
English
Weight
129 KB
Volume
109
Category
Article
ISSN
0340-6717

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Holocarboxylase synthetase is one of two enzymes known to be involved in the metabolism of biotin. It catalyses the fixation of biotin to inactive apocarboxylases yielding active carboxylases. Deficiency of this enzyme leads to multiple carboxylase deficiency which is fatal in the absence of prompt

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