2025年3月30日 · SIPA1L2 (Signal Induced Proliferation Associated 1 Like 2) is a Protein Coding gene. Diseases associated with SIPA1L2 include Warburg Micro Syndrome 4 and Charcot-Marie-Tooth Disease Type 1A. Gene Ontology (GO) annotations related to this gene include GTPase activator activity. An important paralog of this gene is SIPA1L1.

Signal-induced proliferation-associated 1-like protein 2 is a protein that in humans is encoded by the SIPA1L2 gene. [5]

2019年11月29日 · Here, we show that in neurons BDNF/TrkB traffick in amphisomes that signal locally at presynaptic boutons during retrograde transport to the soma. This is orchestrated by the Rap GTPase-activating...

RapGAP activity of SIPA1L2 and controls retrograde trafficking and local signaling of TrkB. Following induction of presynaptic plasticity, amphisomes dissociate from dynein at boutons

2025年2月8日 · SIPA1L2 is a potential genetic modifier of CMT1A phenotypic expressions. Our results suggest that rs329648 is associated with risk of developing PD in the Han Chinese population. Our findings should be verified in further studies, and they highlight the need for functional studies of MIR4697.

SIPA1L2 (signal-induced proliferation-associated 1 like 2), the top identified candidate modifier gene, was expressed in the peripheral nerve, and our functional studies identified and confirmed interacting proteins using coimmunoprecipitation analysis, mass spectrometry, and immunocytochemistry.

该基因编码信号诱导增殖相关 1 样家族的成员。 该家族的成员包含一个 GTPase 激活结构域、一个 PDZ 结构域和一个带有亮氨酸拉链的 C 末端卷曲螺旋结构域。 大鼠中的一种类似蛋白质充当小 GTP 酶 Rap 的 GTP 酶。 [RefSeq 提供，2015 年 9 月] This gene encodes a member of the signal-induced proliferation-associated 1 like family.

Significant associations with PD were observed in the variants of SIPA1L2 (p = 0.001) and VPS13C (p = 0.007), where the T (odd ratio [OR] = 1.484, 95% confidence interval [CI] 1.186-1.858) and A (OR = 1.362, 95% CI 1.087-1.707) alleles serve as the risk alleles, respectively.

2023年11月23日 · SIPA1L2, which connects TrkB amphisomes to a dynein motor, orchestrates neuronal amphisomal trafficking of BDNF/TrkB at presynaptic boutons during retrograde transport to the soma.

2024年10月10日 · Polymorphism in MIR4697 but not VPS13C, GCH1, or SIPA1L2 is associated with risk of Parkinson's disease in a Han Chinese population. Yang X, Zheng J, An R, Tian S, Zhao Q, Chen Y, Huang H, Ning PP, Song Y, Xu YYang X, et al. Neurosci Lett, 2017 May 22. PMID 28380328