| 别名 | SALL4 |
| 基因名称 | Endogenous |
| 蛋白名称 | SALL4 ZNF797 |
| 推荐应用 | |
| 反应物种 | SALL4 |
| 存储缓冲液 | WB 1:2000-1:10000;IF 1:200-1:1000;ELISA 1:5000-1:20000; |
| Human Swissprot No. | 57167 |
| Mouse Gene ID | Q9UJQ4 |
| 特异性 | Monoclonal |
| 稀释度 | Unmodified |
| 参考分子量 | 112kD |
| 预测分子量 | WB,IF,ELISA |
| 运输及保存条件 | Protein A |
| 宿主 | 165kD |
| 同种型 | Rabbit |
| 背景介绍 | This gene encodes a zinc finger transcription factor thought to play a role in the development of abducens motor neurons. Defects in this gene are a cause of Duane-radial ray syndrome (DRRS). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015], |
| 细胞定位 | Nucleus |
| 功能 | Disease:Defects in SALL4 are the cause of Duane-radial ray syndrome (DRRS) [MIM:607323]; also known as Okihiro syndrome. DRRS is a disorder characterized by the association of forearm malformations with Duane retraction syndrome.,Disease:Defects in SALL4 are the cause of IVIC syndrome [MIM:147750]. IVIC syndrome is an autosomal dominant condition characterized by upper limbs anomalies (radial ray defects, carpal bones fusion), extraocular motor disturbances, congenital bilateral non-progressive mixed hearing loss. Other less consistent malformations include heart involvement, mild thrombocytopenia and leukocytosis (before age 50), shoulder girdle hypoplasia, imperforate anus, kidney malrotation or rectovaginal fistula. The IVIC syndrome is an allelic disorder of Duane-radial ray syndrome (DRRS) with a similar phenotype.,Function:Probable transcription factor.,similarity:Belongs to the sal C2H2-type zinc-finger protein family.,similarity:Contains 7 C2H2-type zinc fingers.,subunit:Interacts with NANOG.,tissue specificity:Expressed in testis., |
| 纯化 | PBS, 50% glycerol, 0.05% Proclin 300, 0.05%BSA |
| Clonality | -15°C to -25°C/1 year(Do not lower than -25°C) |
| 修饰类型 | IgG,Kappa |
| 细胞定位 | Nucleus |
| 组织表达 | Expressed in testis. Constitutively expressed in acute myeloid leukemia (AML). |
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