RNA reader protein, which recognizes and binds specific RNAs, thereby regulating RNA metabolic processes, such as pre-mRNA splicing, circular RNA (circRNA) formation, mRNA export, mRNA stability and/or translation.Involved in various cellular processes, such as mRNA storage into stress granules, apoptosis, lipid deposition, interferon response, glial cell fate and development.
产品应用
应用
已检合格种属
预测种属
推荐稀释比例
WB
Mouse, Rat
Human
1:500-2000
Flow-Cyt
Mouse, Rat, Human
1:50-100
ICC/IF
Mouse, Rat, Human
1:50-200
交叉反应
交叉反应: Mouse, Rat (predicted: Human)
相关产品
暂无相关产品
靶标
基因名
SYNGAP1
蛋白名
Ras/Rap GTPase-activating protein SynGAP
亚基
Interacts KLHL17, CAMK2A and CAMK2B. Interacts with MPDZ.
翻译后修饰
Phosphorylated by CaM-kinase II. Dephosphorylated upon NMDA receptor activation or SYNGAP1/MPDZ complex disruption.
疾病
Defects in SYNGAP1 are the cause of mental retardation autosomal dominant type 5 (MRD5) [MIM:612621]. Mental retardation is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. MRD5 patients show global developmental delay with delayed motor development, hypotonia, moderate-to-severe mental retardation, and severe language impairment. Autism can be present in some patients.
Major constituent of the PSD essential for postsynaptic signaling. Inhibitory regulator of the Ras-cAMP pathway. Member of the NMDAR signaling complex in excitatory synapses, it may play a role in NMDAR-dependent control of AMPAR potentiation, AMPAR membrane trafficking and synaptic plasticity. Regulates AMPAR-mediated miniature excitatory postsynaptic currents. May be involved in certain forms of brain injury, leading to long-term learning and memory deficits.