Product Name	Anti-MITF/APC
Chinese Name	APC标记的MITF相关转录因子单克隆抗体
Alias	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.
Research Area	Cell biology  immunology  Chromatin and nuclear signals  transcriptional regulatory factor  Epigenetics
Immunogen Species	Mouse
Clonality	Monoclonal
Clone NO.	M2A1
React Species	(predicted: Human, Mouse, Rat, )
Applications	not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
Molecular weight	59kDa
Form	Lyophilized or Liquid
Concentration	1mg/ml
immunogen	Recombinant human MITF
Lsotype	IgG1,k
Purification	affinity purified by Protein G
Storage Buffer	Preservative: 15mM Sodium Azide, Constituents: 1% BSA, 0.05M PB, pH 7.5.
Storage	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.
Product Detail	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.

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