| 别名 | DOM;WS4;PCWH;WS2E;WS4C;SOX-10 |
| 基因名称 | SOX10 |
| 蛋白名称 | Transcription factor SOX-10 |
| 推荐应用 | |
| 反应物种 | Human,Mouse,Rat, |
| 存储缓冲液 | PBS, 50% glycerol, 0.05% Proclin 300, 0.05%BSA |
| Human Gene Link | 6663 |
| Human Swissprot No. | P56693 |
| Mouse Swissprot No. | Q04888 |
| Rat Swissprot No. | O55170 |
| 特异性 | endogenous |
| 稀释度 | IHC 1:1000-1:4000;WB 1:1000-1:5000;IF 1:200-1:1000;ELISA 1:5000-1:20000;IP 1:50-1:200; |
| 参考分子量 | MW(Observed):62kD |
| 预测分子量 | MW(Calculated):50kD |
| 运输及保存条件 | -15°C to -25°C/1 year(Do not lower than -25°C) |
| 宿主 | Rabbit |
| 同种型 | IgG,Kappa |
| 背景介绍 | This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development. Mutations in this gene are associated with Waardenburg-Shah and Waardenburg-Hirschsprung disease. [provided by RefSeq, Jul 2008], |
| 细胞定位 | Cytoplasm, Nucleus |
| 功能 | Disease:Defects in SOX10 are a cause of Waardenburg syndrome type 4 (WS4) [MIM:277580]; also known as Waardenburg-Shah syndrome. WS4 is characterized by the association of Waardenburg features (depigmentation and deafness) and the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease).,Disease:Defects in SOX10 are a cause of Yemenite deaf-blind hypopigmentation syndrome [MIM:601706]. The disorder consists of cutaneous hypopigmented and hyperpigmented spots and patches, microcornea, coloboma and severe hearing loss. Another case observed in a girl with similar skin symptoms and hearing loss but without microcornea or coloboma is reported as a mild form of this syndrome.,Disease:Defects in SOX10 are the cause of peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH) [MIM:609136]; also called neurologic variant of Waardenburg-Shah syndrome. PCWH is a rare, complex and more severe neurocristopathy that includes features of 4 distinct syndromes: peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease.,Disease:Defects in SOX10 are the cause of Waardenburg syndrome type 2E (WS2E) [MIM:611584]. WS2 is a genetically heterogeneous, autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, and absence of dystopia canthorum. The frequency of deafness is higher in WS2 than in WS1.,Function:Transcription factor that seems to function synergistically with the POU domain protein TST-1/OCT6/SCIP. Could confer cell specificity to the function of other transcription factors in developing and mature glia.,similarity:Contains 1 HMG box DNA-binding domain.,tissue specificity:Expressed in fetal brain and in adult brain, heart, small intestine and colon., |
| 纯化 | Protein A |
| Clonality | Monoclonal |
| 修饰类型 | Unmodified |
| 细胞定位 | Cytoplasm, Nucleus |
| 组织表达 | Expressed in fetal brain and in adult brain, heart, small intestine and colon. |
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