菜单 基因医生

蛋白激酶c(pkc)是一个丝氨酸和苏氨酸特异性蛋白激酶家族,可被钙和第二信使甘油二酯激活。pkc家族成员磷酸化多种蛋白质靶点,参与多种细胞信号传导途径。pkc也是一类肿瘤促进剂佛波酯的主要受体。pkc家族的每个成员都有一个特定的表达谱,并且被认为在细胞中扮演着不同的角色。该基因编码的蛋白是pkc家族成员之一。这种蛋白激酶仅在大脑和脊髓中表达,其定位仅限于神经元。已有研究表明,包括长时程增强(ltp)和长时程抑制(ltd)在内的多种神经功能都需要这种激酶。小鼠的基因敲除研究也表明,这种激酶可能与神经病理性疼痛的发展有关。该蛋白的缺陷与神经退行性疾病脊髓小脑ATAXIA14(SCA14)有关。已经发现了两个编码不同亚型的转录变体。[由RefSeq提供,2015年10月]
Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play distinct roles in cells. The protein encoded by this gene is one of the PKC family members. This protein kinase is expressed solely in the brain and spinal cord and its localization is restricted to neurons. It has been demonstrated that several neuronal functions, including long term potentiation (LTP) and long term depression (LTD), specifically require this kinase. Knockout studies in mice also suggest that this kinase may be involved in neuropathic pain development. Defects in this protein have been associated with neurodegenerative disorder spinocerebellar ataxia-14 (SCA14). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

基因名:PRKCG
别名:PKCC,PKCG,SCA14,PKCI(3),PKCgamma,PKC-gamma
基因ID:5582
Chromosome:
(GRCh37)
19 Start: 54385467 End: 54410906 Strand: 
信号通路:  
PRKCG 基因突变与药物