CHD1 和 CHD2 亚家族
中文名称
通路描述
CHD1 和 CHD2 亚家族属于 CHD 亚家族 I 成员。CHD1 和 CHD2 作为单体 ATP 依赖性的染色质重塑因子发挥作用（参见 Alendar and Berns, 2021; Clapier et al, 2017）。人类 CHD1 和 CHD2 在 N 端具有双染色质结构域，中央为 SNF2 型 ATP 酶结构域，C 端为 SANT-SLIDE DNA 结合结构域（参见 Alendar and Berns, 2021; Li et al, 2023）。它们在氨基酸水平上 60% 相同，80% 相似（Liu et al, 2015），但 C 端区域存在显著差异，可能贡献不同的功能。这两种蛋白均被证明可与 H3K4me3 结合，但亲和力不同（Sims et al, 2005; Sims et al, 2007; Flanagan et al 2007; Flanagan et al, 2005），并具有体外和体内 ATP 依赖性的染色质重塑活性（Luijsterberg et al, 2016, Tran et al, 2000; 参见 Alendar and Berns, 2021; Li et al, 2023）。这两种蛋白均与转录活跃区域结合，可能参与组蛋白 H3.3 的沉积（Harada et al, 2012; Konev et al, 2007; 参见 Alendar and Berns, 2021）。
英文描述
Defective SLC40A1 causes hemochromatosis 4 (HFE4) (macrophages) SLC40A1 (MTP1 aka ferroportin or IREG1) is highly expressed on macrophages where it mediates iron efflux from the breakdown of haem. SLC40A1 colocalises with ceruloplasmin (CP) which stablizes SLC40A1 and is necessary for the efflux reaction to occur. Six copper ions are required by ceruloplasmin as a cofactor.
Defects in SLC40A1 can cause hemochromatosis 4 (HFE4; MIM:606069), a disorder of iron metabolism characterised by iron overload. Excess iron is deposited in a variety of organs leading to their failure, resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis and hypogonadotropic hypogonadism. Severe effects of the disease don't usually appear until after decades of progressive iron overloading (De Domenico et al. 2005, 2006, 2011, Kaplan et al. 2011).
Defects in SLC40A1 can cause hemochromatosis 4 (HFE4; MIM:606069), a disorder of iron metabolism characterised by iron overload. Excess iron is deposited in a variety of organs leading to their failure, resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis and hypogonadotropic hypogonadism. Severe effects of the disease don't usually appear until after decades of progressive iron overloading (De Domenico et al. 2005, 2006, 2011, Kaplan et al. 2011).
所含基因
1 个基因