缺陷的 SLC40A1 导致 4 型血色病（HFE4）（巨噬细胞）
中文名称
通路描述
SLC40A1（MTP1 或 ferroportin 或 IREG1）在巨噬细胞中高表达，介导铁从血红蛋白分解中的外排。SLC40A1 与铜蓝蛋白（CP）共定位，稳定 SLC40A1 并对于外排反应的发生是必要的。铜蓝蛋白需要六个铜离子作为辅因子。SLC40A1 缺陷可导致 4 型血色病（HFE4；MIM:606069），这是一种铁代谢障碍，其特征是铁过载。过量铁沉积在各种器官中，导致器官衰竭，引发严重疾病，包括肝硬化、肝癌、糖尿病、心肌病、关节炎和低促性腺激素性性腺功能减退症。该疾病的严重症状通常不会在数十年渐进性铁过载后出现（De Domenico 等 2005, 2006, 2011, Kaplan 等 2011）。
英文描述
Interleukin-2 family signaling The interleukin-2 family (also called the common gamma chain cytokine family) consists of interleukin (IL)2, IL9, IL15 and IL21. Although sometimes considered to be within this family, the IL4 and IL7 receptors can form complexes with other receptor chains and are represented separately in Reactome. Receptors of this family associate with JAK1 and JAK3, primarily activating STAT5, although certain family members can also activate STAT1, STAT3 or STAT6.
所含基因
2 个基因