In-depth analysis of OTC A208T case induced by OTC gene mutation and research on the prediction and simulation of the impact on protein function

• Main Authors: Qingyang Hu (Author), Haiming Chen (Author), Tianyi Liu (Author), Xue Dong (Author), Xuejiao Hu (Author), Wenxin Yan (Author), Zhong Li (Author)
• Format: Book
• Published: Frontiers Media S.A., 2024-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

BackgroundOrnithine transcarbamylase deficiency (OTCD), a rare hereditary disease caused by gene mutation of ornithine transcarbamylase (OTC), is the most prevalent type among urea cycle disorders. OTCD typically leads to mitochondrial enzyme dysfunction, preventing the synthesis of citrulline from...