缺陷的ABCC8可导致低血糖和高血糖
中文名称
通路描述
ABCC8是β细胞ATP敏感钾通道（KATP）的一个亚基。KATP通道在胰岛素释放的控制中起重要作用。ATP:ADP比值升高会关闭KATP通道，导致细胞去极化、钙离子内流以及胰岛素储存颗粒的胞吐。ABCC8的缺陷会导致胰岛素分泌失调，从而引起高血糖或低血糖。观察到的特定表型包括非胰岛素依赖型糖尿病（NIDDM）、永久性新生儿糖尿病（PNDM）、暂时性新生儿糖尿病2（TNDM2）、家族性胰岛素依赖型低血糖1（HHF1）和亮氨酸诱导的低血糖（LIH）。
英文描述
RHO GTPases Activate NADPH Oxidases NADPH oxidases (NOX) are membrane-associated enzymatic complexes that use NADPH as an electon donor to reduce oxygen and produce superoxide (O2-) that serves as a secondary messenger (Brown and Griendling 2009).NOX2 complex consists of CYBB (NOX2), CYBA (p22phox), NCF1 (p47phox), NCF2 (p67phox) and NCF4 (p40ohox). RAC1:GTP binds NOX2 complex in response to VEGF signaling by directly interracting with CYBB and NCF2, leading to enhancement of VEGF-signaling through VEGF receptor VEGFR2, which plays a role in angiogenesis (Price et al. 2002, Bedard and Krause 2007). RAC2:GTP can also activate the NOX2 complex by binding to CYBB and NCF2, leading to production of superoxide in phagosomes of neutrophils which is necessary fo the microbicidal activity of neutrophils (Knaus et al. 1991, Roberts et al. 1999, Kim and Dinauer 2001, Jyoti et al. 2014).NOX1 complex (composed of NOX1, NOXA1, NOXO1 and CYBA) and NOX3 complex (composed of NOX3, CYBA, NCF1 amd NCF2 or NOXA1) can also be activated by binding to RAC1:GTP to produce superoxide (Cheng et al. 2006, Miyano et al. 2006, Ueyama et al. 2006).
所含基因
24 个基因