货号：BSCY0470
AV026640;BCH;Benign chorea;BHC;Homeobox protein NK 2 homolog A;Homeobox protein NK-2 homolog A;Homeobox protein Nkx 2.1;Homeobox protein Nkx-2.1;Homeobox protein Nkx2.1;NK 2;NK 2 homolog A;NK2;NK2 homeobox 1;NK2, drosophila, homolog of, A;NK2.1, Mouse, ho
| 别名 | AV026640;BCH;Benign chorea;BHC;Homeobox protein NK 2 homolog A;Homeobox protein NK-2 homolog A;Homeobox protein Nkx 2.1;Homeobox protein Nkx-2.1;Homeobox protein Nkx2.1;NK 2;NK 2 homolog A;NK2;NK2 homeobox 1;NK2, drosophila, homolog of, A;NK2.1, Mouse, ho |
| 基因名称 | NKX2-1 |
| 蛋白名称 | AV026640;BCH;Benign chorea;BHC;Homeobox protein NK 2 homolog A;Homeobox protein NK-2 homolog A;Homeobox protein Nkx 2.1;Homeobox protein Nkx-2.1;Homeobox protein Nkx2.1;NK 2;NK 2 homolog A;NK2;NK2 homeobox 1;NK2, drosophila, homolog of, A;NK2.1, mouse, ho |
| 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 | 7080 |
| Human Swissprot No. | P43699 |
| Mouse Gene ID | 21869 |
| Mouse Swissprot No. | P50220 |
| Rat Swissprot No. | P23441 |
| 特异性 | endogenous |
| 稀释度 | IHC 1:200-1:1000;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):40kD |
| 预测分子量 | MW(Calculated):40kD |
| 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 protein initially identified as a thyroid-specific transcription factor. The encoded protein binds to the thyroglobulin promoter and regulates the expression of thyroid-specific genes but has also been shown to regulate the expression of genes involved in morphogenesis. Mutations and deletions in this gene are associated with benign hereditary chorea, choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress, and may be associated with thyroid cancer. Multiple transcript variants encoding different isoforms have been found for this gene. This gene shares the symbol/alias 'TTF1' with another gene, transcription termination factor 1, which plays a role in ribosomal gene transcription. [provided by RefSeq, Feb 2014], |
| 细胞定位 | Nuclear |
| 功能 | Disease:Defects in NKX2-1 are the cause of benign hereditary chorea (BHC) [MIM:118700]; also known as hereditary chorea without dementia. BHC is an autosomal dominant movement disorder. The early onset of symptoms (usully before the age of 5) and the observation that in some BHC families the symptoms tend to decrease in adulthood suggests that the disorder results from a developmental disturbance of the brain. BHC is non-progressive and patients have normal or slightly below normal intelligence. There is considerable inter- and intrafamilial variability, including dysarthria, axial distonia and gait disturbances.,Disease:Defects in NKX2-1 are the cause of choreoathetosis, hypothyroidism, and neonatal respiratory distress (CHNRD) [MIM:610978]. This syndrome include neurological, thyroid, and respiratory problems.,Function:Transcription factor that binds and activates the promoter of thyroid specific genes such as thyroglobulin, thyroperoxidase, and thyrotropin receptor. Crucial in the maintenance of the thyroid differentiation phenotype. May play a role in lung development and surfactant homeostasis.,PTM:Phosphorylated on serine residues.,similarity:Belongs to the NK-2 homeobox family.,similarity:Contains 1 homeobox DNA-binding domain.,tissue specificity:Thyroid and lung., |
| 纯化 | Protein A |
| Clonality | Monoclonal |
| 修饰类型 | Unmodified |
| 细胞定位 | Nuclear |
| 组织表达 | Thyroid/ Lung |
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