| 别名 | Microphthalmia-associated transcription factor |
| 基因名称 | Endogenous |
| 蛋白名称 | MITF |
| 推荐应用 | |
| 反应物种 | MITF |
| 存储缓冲液 | IHC 1:200-500;WB 1:1000-5000;IF 1:200-1000;ELISA 1:5000-20000; |
| Human Gene Link | MITF;BHLHE32;Microphthalmia-associated transcription factor;Class E basic helix-loop-helix protein 32;bHLHe32 |
| Human Swissprot No. | 4286 |
| Mouse Gene ID | O75030 |
| Mouse Swissprot No. | 17342 |
| 特异性 | Monoclonal |
| 稀释度 | Unmodified |
| 参考分子量 | 58kD |
| 预测分子量 | WB,IHC,IF,ELISA |
| 运输及保存条件 | Protein A |
| 宿主 | 58kD |
| 同种型 | Rabbit |
| 背景介绍 | This gene encodes a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. It regulates the differentiation and development of melanocytes retinal pigment epithelium and is also responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008], |
| 细胞定位 | Nuclear |
| 功能 | Alternative products:The X2-type isoforms differ from the X1-type isoforms by the absence of a 6 residue insert,Disease:Defects in MITF are a cause of Waardenburg syndrome type 2 with ocular albinism (WS2-OA) [MIM:103470]. It is an ocular albinism with sensorineural deafness.,Disease:Defects in MITF are the cause of Tietz syndrome [MIM:103500]. It is an autosomal dominant disorder characterized by generalized hypopigmentation and profound, congenital, bilateral deafness. Penetrance is complete.,Disease:Defects in MITF are the cause of Waardenburg syndrome type 2A (WS2A) [MIM:193510]. It is a dominant inherited disorder characterized by sensorineural hearing loss and patches of depigmentation. The features show variable expression and penetrance.,Function:Transcription factor for tyrosinase and tyrosinase-related protein 1. Binds to a symmetrical DNA sequence (E-boxes) (5'-CACGTG-3') found in the tyrosinase promoter. Plays a critical role in the differentiation of various cell types as neural crest-derived melanocytes, mast cells, osteoclasts and optic cup-derived retinal pigment epithelium.,PTM:Phosphorylation at Ser-405 significantly enhances the ability to bind the tyrosinase promoter.,similarity:Belongs to the MiT/TFE family.,similarity:Contains 1 basic helix-loop-helix (bHLH) domain.,subunit:Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA in the form of homodimer or heterodimer with either TFE3, TFEB or TFEC.,tissue specificity:Isoform M is exclusively expressed in melanocytes and melanoma cells. Isoform A and isoform H are widely expressed in many cell types including melanocytes and retinal pigment epithelium (RPE). Isoform C is expressed in many cell types including RPE but not in melanocyte-lineage cells., |
| 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 | Nuclear |
| 组织表达 | Expressed in melanocytes (at protein level). ; [Isoform A2]: Expressed in the retinal pigment epithelium, brain, and placenta (PubMed:9647758). Expressed in the kidney (PubMed:9647758, PubMed:10578055). ; [Isoform C2]: Expressed in the kidney and retinal pigment epithelium. ; [Isoform H1]: Expressed in the kidney. ; [Isoform H2]: Expressed in the kidney. ; [Isoform M1]: Expressed in melanocytes. ; [Isoform Mdel]: Expressed in melanocytes. |
| 研究领域 | >>Mitophagy - animal;>>Osteoclast differentiation;>>Melanogenesis;>>Pathways in cancer;>>Transcriptional misregulation in cancer;>>Melanoma |
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