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MiTF (19X11) Rabbit Monoclonal Antibody  Cite:0    分享

货号： IM68921
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  • 种属：H，M，R
  • 用途：WB，ELISA，IHC-P，IF-P，IF-F，IF-ICC
规格:
50μl 100μl
单位:
支
单价:￥1300.00
产品简介
储存与保存
注意事项
产品简介
  • 产品货号
    IM68921
  • 别名
    MITF;BHLHE32;Microphthalmia-associated transcription factor;Class E basic helix-loop-helix protein 32;bHLHe32
  • 产品名称
    MiTF (19X11) Rabbit Monoclonal Antibody
  • 类别
    抗体产品
  • 基因名称
    MITF
  • 蛋白名称
    Microphthalmia-associated transcription factor
  • Clonality
    Monoclonal
  • 推荐应用
    WB,IHC-P,IF-P,IF-F,IF-ICC,ELISA
  • 反应种属
    Human,Mouse,Rat
  • 存储缓冲液
    PBS, 50% glycerol, 0.05% Proclin 300, 0.05%BSA
  • Human Gene ID
    4286
  • Human Swissprot No.
    O75030
  • Mouse Gene ID
    17342
  • Mouse Swissprot No.
    Q08874
  • 稀释度
    IHC-P 1:200-500, WB 1:1000-5000, IF-P/IF-F/IF-ICC 1:200-1000, ELISA 1:5000-20000
  • 参考分子量
    58kDa
  • 预测分子量
    58kDa
  • 宿主
    Rabbit
  • 同种型
    Monoclonal, rabbit, IgG, Kappa
  • 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].
  • 信号通路
    Melanogenesis;Pathways in cancer;Melanoma
  • 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
    Protein A
储存与保存

1.保存：-20℃

2.有效期：1年

注意事项

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