缺陷的 SLC40A1 导致 4 型血色病 (HFE4)(十二指肠)
中文名称
通路描述
饮食铁的主要吸收部位是十二指肠。亚铁离子 (Fe2+) 从肠道腔隙穿过肠上皮细胞的顶膜被吸收,并穿过基底侧膜释放到门静脉循环中。人类基因 SLC40A1 编码金属转运蛋白 MTP1(也称为铁蛋白或 IREG1)。该蛋白位于肠上皮细胞的基底侧膜上,介导亚铁离子的外排进入门静脉。SLC40A1 与铁蛋白 (HEPH) 共定位,稳定它,对于外排反应的发生是必要的。SLC40A1 的缺陷可导致 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,从而引起严重疾病,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
Keratinization Keratins are the major structural protein of vertebrate epidermis, constituting up to 85% of a fully differentiated keratinocyte (Fuchs 1995). Keratins belong to a superfamily of intermediate filament (IF) proteins that form alpha-helical coiled-coil dimers, which associate laterally and end-to-end to form approximately 10 nm diameter filaments. Keratin filaments are heteropolymeric, formed from equal amounts of acidic type I and basic /neutral type 2 keratins. Humans have 54 keratin genes (Schweitzer et al. 2006). They have highly specific expression patterns, related to the epithelial type and stage of differentiation. Roughly half of human keratins are specific to hair follicles (Langbein & Schweizer 2005). Keratin filaments bundle into tonofilaments that span the cytoplasm and bind to desmosomes and other cell membrane structures (Waschke 2008). This reflects their primary function, maintaining the mechanical stability of individual cells and epithelial tissues (Moll et al. 2008).
所含基因
67 个基因
DSC1
DSC2
DSC3
DSG1
DSG2
DSG3
DSG4
DSP
JUP
KRT1
KRT10
KRT12
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KRT2
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KRT3
KRT31
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KRT33A
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KRT4
KRT40
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KRT7
KRT71
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KRT8
KRT80
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KRT84
KRT85
KRT86
KRT9
PKP1
PKP2
PKP3
PKP4