Biotin metabolism, including IMDs

An important cofactor for carboxylation reaction is the vitamin Biotin. Four carboxylase groups (ACC, MCC, PCC and PC) are activated by binding to biotin and forming holocarboxylases, which in turn are responsible for several metabolic conversion in the Fatty Acid Synthesis, Leucine catabolism, propanoate metabolism and gluconeogenesis. Except for the ACC conversion from acetyl-CoA to malonyl-CoA starting the fatty acid synthesis, all other three interactions are connected to disorders. Furthermore, one can distinguish two "multiple carboxylase defects" (MCDs), which are connected to the conversion of biocytin into biotin (BTD), or unbound biotin to one of the apocarboxylases (HCSD). This pathway was inspired by Chapter 14 (edition 4) of the book of Blau (ISBN 3642403360 (978-3642403361)).

生物素作为羧化反应的重要辅因子，对脂肪酸合成、亮氨酸分解、丙酸代谢以及糖异生等代谢转化过程起着至关重要的作用。四种羧化酶组（ACC、MCC、PCC和PC）通过与生物素结合形成全羧化酶而活化，进而负责上述代谢转化。除了从乙酰辅酶A到丙二酰辅酶A的ACC转化启动脂肪酸合成外，其他三种相互作用均与疾病相关。此外，还可以区分两种“多羧化酶缺陷”（MCDs），它们与生物素转化为生物素（BTD）或未结合的生物素与一种开环羧化酶（HCSD）的转化过程相关。该途径的灵感来源于Blau所著书籍第14章（第4版），ISBN为3642403360（978-3642403361）。

搜集汇总

背景与挑战

背景概述

该数据集详细描述了人类生物素代谢路径，包括其作为羧化反应辅因子的作用、相关代谢疾病（如生物素酶缺乏症）以及涉及的代谢物和蛋白质。数据集来源于WikiPathways，是一个社区策划的开放科学资源。