Overview
| 别名 | DmX-like protein 2; Rabconnectin-3 |
| 基因名 | DMXL2 |
| UniProt ID | Q8TDJ6 |
| 反应种属 | Human |
| 应用 | WB,IP,CHIP |
| 宿主 | Mouse |
| 偶联物 | Unconjugated |
| 修饰 | Unmodified |
| 亚型 | IgG1 |
| 克隆号 | 4H9-T5-C4 |
| 克隆性 | Monoclonal Antibody |
| 分子量 | Calculated MW: 339 kDa |
| 纯化方式 | Affinity Purified |
| 产品形式 | Liquid |
| 推荐稀释比 | WB-1:1000; IP-1:100; CHIP-1:100 |
| 存储缓冲液 | Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.09% sodium azide |
| 保存温度 | Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze/thaw cycles. |
| 背景信息 | Dmx like 2 (DMXL2), also known as rabconnectin-3alpha, is a large synaptic scaffold protein containing 12 WD domains that facilitate complex protein-protein interactions. It is highly expressed in the hippocampus, hypothalamus, and cerebral cortex, where it serves as a scaffold for MADD and RAB3GA on synaptic vesicles. DMXL2 is critical for vesicle trafficking, exocytosis, and v-ATPase-mediated lysosomal acidification, which are essential for neurite elongation and synapse formation. It also plays a significant role in the regulation of Notch signaling and small GTPase binding. Clinically, biallelic loss-of-function variants in DMXL2 cause polyendocrine-polyneuropathy syndrome, characterized by deafness, neurohypophyseal diabetes insipidus, and delayed puberty due to GnRH neuron dysfunction. Additionally, mutations are linked to developmental and epileptic encephalopathy 81 and are considered a strong candidate factor in autism spectrum disorder. |
检测原理