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上海钰博生物科技有限公司
Anti-MITF抗体

Anti-MITF抗体

商家询价

产品名称: Anti-MITF抗体

英文名称: MITF

产品编号: YB--51339M

产品价格: null

产品产地: 中国/美国

品牌商标: Ybscience

更新时间: 2023-08-17T10:29:50

使用范围: 科研使用

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 Anti-MITF抗体

产品编号 YB-51339M
英文名称 MITF
中文名称 MITF相关转录因子单克隆抗体
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; Microphthalmia, mouse, homolog of; Microphthalmia-associated transcription factor; MITF; MITF_HUMAN; WS2; WS2A.  
规格价格 50ul/860元 购买    100ul/1580元 购买        大包装/询价
说 明 书 50ul  100ul  
研究领域 细胞生物  免疫学  染色质和核信号  转录调节因子  表观遗传学  
抗体来源 Mouse
克隆类型 Monoclonal
克 隆 号 M2A1
交叉反应 Human, Mouse, Rat, 
产品应用 WB=1:1000-2000  
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量 59kDa
细胞定位 细胞核 
性    状 Lyophilized or Liquid
浓    度 1mg/ml
免 疫 原 Recombinant human MITF: 
亚    型 IgG1,k
纯化方法 affinity purified by Protein G
储 存 液 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存条件 Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.
PubMed PubMed
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 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. 
[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 often in the skin but also may involve other sites.

Similarity:
Belongs to the MiT/TFE family.
Contains 1 basic helix-loop-helix (bHLH) domain.

SWISS:
O75030

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 product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic application