MITF相关转录因子抗体
规格：1mg/1ml
英文名： MITF
别名： Class E basic helix-loop-helix protein 32; BHLHE32; bHLHe32; Class E basic helix-loop-helix protein 32; CMM8; Homolog of mouse microphthalmia; Mi; Microphthalmia associated transcription factor; Micro
分子量： 59kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：Polyclonal
亚型：IgG
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human MITF
交叉反应：Human, Mouse, Rat, Chicken, Dog, Cow, Horse, Rabbit,
细胞定位：细胞核
MITF相关转录因子抗体产品介绍：background: 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]. Function: Transcription factor for tyrosinase (TYR) and tyrosinase-related protein 1 (TYRP1) that plays a key role in melanocyte development. 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. 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. Interacts with KARS. Subcellular Location: Nucleus. 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. Post-translational modifications: Phosphorylation at Ser-405 significantly enhances the ability to bind the tyrosinase promoter. Phosphorylated at Ser-180 and Ser-516 following KIT signaling, trigerring a short live activation: Phosphorylation at Ser-180 and Ser-516 by MAPK and RPS6KA1, respectively, activate the transcription factor activity but also promote ubiquitination and subsequent degradation by the proteasome. Ubiquitinated following phosphorylation at Ser-180, leading to subsequent degradation by the proteasome. Deubiquitinated by USP13, preventing its degradation. DISEASE: Defects in MITF are the cause of Waardenburg syndromeMITF相关转录因子抗体 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. [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 (TIETZS) [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 a cause of susceptibility to cutaneous malignant melanoma type 8 (CMM8) [MIM:614456]. A malignant neoplasm of melanocytes, arising de novo or from a pre-existing benign nevus, which occurs most oftenMITF相关转录因子抗体 in the skin but also may involve other sites. Similarity: Belongs to the MiT/TFE family. Contains 1 basic helix-loop-helix (bHLH) domain. Gene ID: 4286 Database links: Entrez Gene: 4286 Human Entrez Gene: 17342 Mouse Entrez Gene: 25094 Rat Omim: 156845 Human SwissProt: O75030 Human SwissProt: Q08874 Mouse SwissProt: O88368 Rat Unigene: 166017 Human Unigene: 618266 Human Unigene: 333284 Mouse Unigene: 454504 Mouse Unigene: 31427 Rat Important Note: This MITF相关转录因子抗体product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. MITF微小转录因子是一个黑色素细胞的核蛋白,对黑色素细胞的生成和活性起着关键作用,MITF也是控制细胞外信号的一项调节因子。MITF高度表达于原发和转移的恶性黑色素瘤，也可视为高敏感和高特异的黑色素细胞标记。
产品应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
研究领域：细胞生物 **学 染色质和核信号 转录调节因子 表观遗传学
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid