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MITF Rabbit pAb (bs-21815R)  
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產(chǎn)品編號(hào) bs-21815R
英文名稱 MITF Rabbit pAb
中文名稱 微小細(xì)胞血癥相關(guān)轉(zhuǎn)錄因子抗體
別    名 MITF_HUMAN; Microphthalmia-associated transcription factor; BHLHE32; Class E basic helix-loop-helix protein 32(bHLHe32); MI; WS2; CMM8; WS2A; COMMAD; MITF-A;  
研究領(lǐng)域 細(xì)胞生物  免疫學(xué)  染色質(zhì)和核信號(hào)  轉(zhuǎn)錄調(diào)節(jié)因子  表觀遺傳學(xué)  
抗體來(lái)源 Rabbit
克隆類(lèi)型 Polyclonal
克 隆 號(hào)
交叉反應(yīng) Human,Mouse (predicted: Rat,Rabbit,Pig,Sheep,Cow,Chicken)
產(chǎn)品應(yīng)用 WB=1:500-2000
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
理論分子量 59 kDa
檢測(cè)分子量
細(xì)胞定位 細(xì)胞核 
性    狀 Liquid
濃    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human MITF: 1-100/526 
亞    型 IgG
純化方法 affinity purified by Protein A
緩 沖 液 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.
保存條件 Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles.
注意事項(xiàng) This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed PubMed
產(chǎn)品介紹 The protein encoded by this gene is a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. The encoded protein regulates melanocyte development and is 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. [provided by RefSeq, Aug 2017]

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

SwissProt: O75030 Human

SwissProt: Q08874 Mouse

SwissProt: O88368 Rat



MITF微小轉(zhuǎn)錄因子是一個(gè)黑色素細(xì)胞的核蛋白,對(duì)黑色素細(xì)胞的生成和活性起著關(guān)鍵作用,MITF也是控制細(xì)胞外信號(hào)的一項(xiàng)調(diào)節(jié)因子。MITF高度表達(dá)于原發(fā)和轉(zhuǎn)移的惡性黑色素瘤,也可視為高敏感和高特異的黑色素細(xì)胞標(biāo)記。
產(chǎn)品圖片
Sample: A431(Human) Cell Lysate at 30 ug Primary: Anti-MITF (bs-21815R) at 1/1000 dilution Secondary: IRDye800CW Goat Anti-Rabbit IgG at 1/20000 dilution Predicted band size: 59 kD Observed band size: 59 kD
Sample: Heart (Mouse) Lysate at 40 ug Primary: Anti- MITF (bs-21815R) at 1/1000 dilution Secondary: IRDye800CW Goat Anti-Rabbit IgG at 1/20000 dilution Predicted band size: 59 kD Observed band size: 59 kD
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