验证数据展示
产品信息
27905-1-PBS targets SH3TC2 in IHC, IF/ICC, Indirect ELISA applications and shows reactivity with human samples.
| 经测试应用 | IHC, IF/ICC, Indirect ELISA Application Description |
| 经测试反应性 | human |
| 免疫原 |
CatNo: Ag27352 Product name: Recombinant human SH3TC2 protein Source: e coli.-derived, PGEX-4T Tag: GST Domain: 254-467 aa of BC113879 Sequence: CGLSRKRDWTGSYQIGRGRCKALTGYEPGEKDELNFYQGESIEIIGFVIPGLQWFIGKSTSSGQVGFVPTRNIDPDSYSPMSRNSAFLSDEERCSLLALGSDKQTECSSFLHTLARTDITSVYRLSGFESIQNPPNDLSASQPEGFKEVRPGRAWEEHQAVGSRQSSSSEDSSLEEELLSATSDSYRLPEPDDLDDPELLMDLSTGQEEEAENF 种属同源性预测 |
| 宿主/亚型 | Rabbit / IgG |
| 抗体类别 | Polyclonal |
| 产品类型 | Antibody |
| 全称 | SH3 domain and tetratricopeptide repeats 2 |
| 别名 | CMT4C, PP12494, SH3 domain and tetratricopeptide repeat-containing protein 2 |
| 计算分子量 | 1288 aa, 145 kDa |
| GenBank蛋白编号 | BC113879 |
| 基因名称 | SH3TC2 |
| Gene ID (NCBI) | 79628 |
| RRID | AB_3742267 |
| 偶联类型 | Unconjugated |
| 形式 | Liquid |
| 纯化方式 | Antigen affinity purification |
| UNIPROT ID | Q8TF17 |
| 储存缓冲液 | PBS only, pH 7.3. |
| 储存条件 | Store at -80°C. The product is shipped with ice packs. Upon receipt, store it immediately at -80°C |
背景介绍
The SH3TC2 protein (also known as KIAA1985 protein) is an adaptor protein involved in myelin formation in the peripheral nervous system. This protein contains multiple functional domains, including the SH3 (Src homology 3) and TPR (tetratricopeptide repeat) domains, which mediate protein-protein interactions. It is highly expressed in Schwann cells and is crucial for maintaining the stability of myelin structure. Clinically, mutations in the SH3TC2 gene are associated with Charcot-Marie-Tooth disease type 4C (CMT4C), an autosomal recessive peripheral neuropathy characterized by progressive demyelination of motor and sensory nerves, limb weakness, and loss of sensation. Studies have shown that the absence or dysfunction of SH3TC2 protein can lead to disordered signaling pathways in Schwann cells (such as Rab11-mediated membrane transport defects), affecting myelin development and repair.




