Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations

• Main Authors: Yen Hui Chiu, Ying Chen Chang, Yu Hsin Chang, Dau Ming Niu, Yan Ling Yang, Jun Ye, Jianhui Jiang, Yoshiyuki Okano, Dong Hwan Lee, Suthipong Pangkanon, Chulaluck Kuptanon, Ngu Lock Hock, Mary Anne Chiong, Barbra V. Cavan, Kwang Jen Hsiao, Tze Tze Liu
• Other Authors: National Yang-Ming University Taiwan
• Format: Article
• Published: 2018
• Subjects: Biochemistry, Genetics and Molecular Biology; Medicine
• Online Access: https://repository.li.mahidol.ac.th/handle/123456789/13820
• Institution: Mahidol University

The enzyme 6-pyruvoyl-tetrahydropterin synthase (PTPS, gene symbol: PTS) is involved in the second step of the de novo biosynthesis of tetrahydrobiopterin (BH4), which is a vital cofactor of nitric oxide synthases and three types of aromatic amino acid hydroxylases; the latter are important enzymes...