GCG基因编码胰高血糖素原(proglucagon),这是一种重要的前体蛋白,在体内经过组织特异性剪切后生成多种具有生物活性的肽类激素,包括胰高血糖素(glucagon)、胰高血糖素样肽-1(GLP-1)和胰高血糖素样肽-2(GLP-2)。这些激素在调节血糖代谢、肠道功能和能量平衡中发挥关键作用。胰高血糖素主要由胰腺α细胞分泌,通过促进肝糖原分解和糖异生来提高血糖水平;而GLP-1和GLP-2则主要由肠道L细胞产生,GLP-1能刺激胰岛素分泌、抑制胰高血糖素释放并延缓胃排空,从而降低血糖,而GLP-2则促进肠道黏膜生长和营养吸收。GCG基因突变可能导致激素产生异常,例如某些突变与胰高血糖素分泌不足相关,可能引发低血糖症,而另一些突变则可能导致胰高血糖素瘤或肠道激素分泌紊乱。GCG过表达可能导致血糖异常升高或肠道功能亢进,而表达降低则可能引起低血糖或肠道吸收障碍。GCG属于胰高血糖素相关肽家族,该家族成员均为由前体蛋白剪切产生的多肽激素,共同参与调节代谢和能量稳态。由于GLP-1的降糖作用,基于GLP-1的药物(如GLP-1受体激动剂)已成为治疗2型糖尿病的重要选择,而GLP-2类似物则用于治疗短肠综合征。GCG及其产物在代谢性疾病、肠道疾病和肥胖等领域具有重要的临床意义。
The protein encoded by this gene is actually a preproprotein that is cleaved into four distinct mature peptides. One of these, glucagon, is a pancreatic hormone that counteracts the glucose-lowering action of insulin by stimulating glycogenolysis and gluconeogenesis. Glucagon is a ligand for a specific G-protein linked receptor whose signalling pathway controls cell proliferation. Two of the other peptides are secreted from gut endocrine cells and promote nutrient absorption through distinct mechanisms. Finally, the fourth peptide is similar to glicentin, an active enteroglucagon. [provided by RefSeq, Jul 2008]
由该基因编码的蛋白质实际上是被切割成四个不同的成熟肽一个前原。其中之一,胰高血糖素,是胰腺激素,通过刺激糖原分解和糖原异生抵消胰岛素的降血糖作用。胰高血糖素为特定的G蛋白偶联受体,其信号通路控制细胞增殖的配体。其他肽两个来自肠内分泌细胞分泌,并通过不同的机制促进营养吸收。最后,第四肽类似于肠高血糖素,活性enteroglucagon。 [由RefSeq的,2008年7月提供]
GCG基因(以及对应的蛋白质)的细胞分布位置:
GCG基因的本体(GO)信息:
名称 |
---|
4080 Neuroactive ligand-receptor interaction [PATH:hsa04080] |
4911 Insulin secretion [PATH:hsa04911] |
4922 Glucagon signaling pathway [PATH:hsa04922] |
名称 |
---|
Class B/2 (Secretin family receptors) |
G alpha (q) signalling events |
G alpha (s) signalling events |
Gastrin-CREB signalling pathway via PKC and MAPK |
Glucagon signaling in metabolic regulation |
Glucagon-like Peptide-1 (GLP1) regulates insulin secretion |
Glucagon-type ligand receptors |
GPCR downstream signaling |
GPCR ligand binding |
Incretin synthesis, secretion, and inactivation |
Integration of energy metabolism |
Metabolism |
Metabolism of proteins |
Peptide hormone metabolism |
Regulation of insulin secretion |
Signal Transduction |
Signaling by GPCR |
Synthesis, secretion, and deacylation of Ghrelin |
Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Diabetes Mellitus, Non-Insulin-Dependent | 0.154364835 | 89 | 2 | BeFree_CTD_human_GAD |
Obesity | 0.129153079 | 27 | 1 | BeFree_CTD_human_GAD |
Hyperglycemia | 0.126786047 | 27 | 3 | BeFree_CTD_human |
Hyperinsulinism | 0.121628651 | 7 | 0 | BeFree_CTD_human |
Hypertensive disease | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Colitis | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Spasm | 0.12 | 1 | 0 | CTD_human |
Tachycardia | 0.12 | 1 | 0 | CTD_human |
Hyperactive behavior | 0.12 | 1 | 0 | CTD_human |
Comatose | 0.12 | 1 | 0 | CTD_human |
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