鞘磷脂生物合成
中文名称
通路描述
1-酰基甘油 -3-磷酸由二羟基丙酮磷酸、酰基 CoA 和 NADPH + H+ 在四步反应中合成，这些反应由过氧化物酶体酶催化，发生在细胞器基质或与其膜相关联的位置。这些反应在此处针对棕榈酰（C16:0）CoA 进行了注释。在一系列在细胞质和内质网中尚未充分表征的反应中，这些分子被转化为醚脂质（鞘磷脂）。鞘磷脂的功能尚不清楚。然而，它们是磷脂的一个丰富亚类，其代谢缺陷与严重的人类疾病相关（de Vet et al. 1999; Nagan and Zoeller 2001）。
英文描述
Defective SLC40A1 causes hemochromatosis 4 (HFE4) (duodenum) The primary site for absorption of dietary iron is the duodenum. Ferrous iron (Fe2+) is taken up from the gut lumen across the apical membranes of enterocytes and released into the portal vein circulation across basolateral membranes. The human gene SLC40A1 encodes the metal transporter protein MTP1 (aka ferroportin or IREG1). This protein resides on the basolateral membrane of enterocytes and mediates ferrous iron efflux into the portal vein. SLC40A1 colocalises with hephaestin (HEPH) which stablises it and is necessary for the efflux reaction to occur.
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