Hh 突变体通过 ERAD 降解
中文名称
通路描述
Hh 信号通路对于多种发育过程至关重要,破坏 Hh 配体正常加工和生物合成的突变会导致新生儿异常。SHH 是多种与先天性脑裂畸形(holoprosencephaly)相关的基因之一,该疾病导致脑和颅面发育异常(Roessler et al, 2009; 综述于 Roessler and Muenke, 2011)。与疾病相关的 SHH 变体影响前体的自催化加工,严重损害分泌型活性 Hh-Np 的产生,从而阻断信号传导(综述于 Pan et al, 2013)。
英文描述
Gastric acid is a key factor in normal upper gastrointestinal functions, including protein digestion and calcium and iron absorption, as well as providing some protection against bacterial infections. The principal stimulants of acid secretion at the level of the parietal cell are histamine (paracrine), gastrin (hormonal), and acetycholine (ACh; neurocrine). Stimulation of acid secretion typically involves an initial elevation of intracellular calcium and cAMP, followed by activation of protein kinase cascades, which trigger the translocation of the proton pump, H+,K+-ATPase, from cytoplasmic tubulovesicles to the apical plasma membrane and thereby H+ secretion into the stomach lumen.
所含基因
76 个基因
ACTB
ACTG1
ADCY1
ADCY2
ADCY3
ADCY4
ADCY5
ADCY6
ADCY7
ADCY8
ADCY9
ATP1A1
ATP1A2
ATP1A3
ATP1A4
ATP1B1
ATP1B2
ATP1B3
ATP1B4
ATP4A
ATP4B
CA2
CALM1
CALM2
CALM3
CALML3
CALML4
CALML5
CALML6
CAMK2A
CAMK2B
CAMK2D
CAMK2G
CCKBR
CFTR
CHRM3
EZR
GAST
GNAI1
GNAI2
GNAI3
GNAQ
GNAS
HRH2
ITPR1
ITPR2
ITPR3
KCNE2
KCNJ1
KCNJ10
KCNJ15
KCNJ16
KCNJ2
KCNK10
KCNK2
KCNQ1
MYLK
MYLK2
MYLK3
MYLK4
PLCB1
PLCB2
PLCB3
PLCB4
PRKACA
PRKACB
PRKACG
PRKCA
PRKCB
PRKCG
SLC26A7
SLC4A2
SLC9A1
SLC9A4
SST
SSTR2