英文名称
SynGAP Recombinant Rabbit mAb
中文名称
认知缺陷突触相关蛋白SynGAP重组兔单抗
英文别名
MRD5; RASA1; RASA5; SYNGAP; Gm1963; SYGP1_HUMAN; SYNGAP1; Neuronal RasGAP; Synaptic Ras GTPase-activating protein 1 (Synaptic Ras-GAP 1); KIAA1938; SYGP1_RAT; p135 SynGAP; synaptic Ras GTPase activating protein 1; synaptic Ras GTPase activating protein 1 homolog (rat)
免疫原
A synthesized peptide derived from human SynGAP: 1320-1343/1343
纯化方法
affinity purified by Protein A
储存液
10mM phosphate buffered saline(pH 7.4) with 150mM sodium chloride, 0.05% BSA, 0.02% Proclin300 and 50% glycerol.
保存条件
Store at 4℃ for short term. Store at -20℃ for long term. Avoid repeated freeze/thaw cycles.
注意事项
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
背景资料
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.
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.
相似性
Contains 1 C2 domain.
Contains 1 PH domain.
Contains 1 Ras-GAP domain.
功能
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.