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Rabbit Anti-MITF/AP Conjugated antibody (bs-1990R-AP)
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说 明 书: 100ul  
100ul/2980.00元
大包装/询价
产品编号 bs-1990R-AP
英文名称 Rabbit Anti-MITF/AP Conjugated antibody
中文名称 碱性磷酸酶(AP)标记的MITF相关转录因子抗体
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 100ul/2980元 购买        大包装/询价
说 明 书 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 Rabbit
克隆类型 Polyclonal
交叉反应 Mouse,  (predicted: Human, Rat, Chicken, Dog, Cow, Horse, Rabbit, )
产品应用 WB=1:50-200 IHC-P=1:50-200 IHC-F=1:50-200 ICC=1:50-200 
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量 59kDa
性    状 Lyophilized or Liquid
浓    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human MITF
亚    型 IgG
纯化方法 affinity purified by Protein A
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.
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.

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 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。

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