Camk2a - calcium/calmodulin-dependent protein kinase II alpha Gene

中文名称：钙/钙调蛋白依赖性蛋白激酶 II α

种属: Mus musculus

同用名: CaMKII; mKIAA0968

关于 Camk2a

功能概要

该基因编码的蛋白可启动钙调蛋白结合活动；谷氨酸受体结合活性；和蛋白丝氨酸/苏氨酸激酶活性。参与多个过程，包括蛋白质磷酸化；调节内源性大麻素信号通路；和突触小泡对接的调节。作用于多个过程的上游或内部，包括调节化学突触传递；心肌细胞凋亡过程的正调控；和对缺血的反应。位于 Schaffer 侧支 - CA1 突触；线粒体；和突触后密度。以多种结构表达，包括消化系统；早期胚胎；眼睛;泌尿生殖系统；和神经系统。用于研究自闭症谱系障碍和双相情感障碍。该基因的人类直系同源基因与常染色体显性智力低下 53 和常染色体隐性非综合征性智力障碍有关。与人 CAMK2A（钙/钙调蛋白依赖性蛋白激酶 II α）同源。 [由基因组资源联盟提供，2022 年 4 月]

Enables Calmodulin binding activity; glutamate receptor binding activity; and protein serine/threonine kinase activity. Involved in several processes, including protein phosphorylation; regulation of endocannabinoid signaling pathway; and regulation of synaptic vesicle docking. Acts upstream of or within several processes, including modulation of chemical synaptic transmission; positive regulation of cardiac muscle cell apoptotic process; and response to ischemia. Located in Schaffer collateral - CA1 synapse; mitochondrion; and postsynaptic density. Is expressed in several structures, including alimentary system; early embryo; eye; genitourinary system; and nervous system. Used to study autism spectrum disorder and bipolar disorder. Human ortholog(s) of this gene implicated in autosomal dominant mental retardation 53 and autosomal recessive non-syndromic intellectual disability. Orthologous to human CAMK2A (calcium/Calmodulin dependent protein kinase II alpha). [provided by Alliance of Genome Resources, Apr 2022]