|Other Names||Microphthalmia-associated transcription factor, Class E basic helix-loop-helix protein 32, bHLHe32, MITF, BHLHE32|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||Transcription factor that regulates the expression of genes with essential roles in cell differentiation, proliferation and survival. Binds to symmetrical DNA sequences (E-boxes) (5'- CACGTG-3') found in the promoters of target genes, such as BCL2 and tyrosinase (TYR). Plays an important role in melanocyte development by regulating the expression of tyrosinase (TYR) and tyrosinase-related protein 1 (TYRP1). Plays a critical role in the differentiation of various cell types, such as neural crest- derived melanocytes, mast cells, osteoclasts and optic cup-derived retinal pigment epithelium.|
|Tissue Location||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. Isoform Mdel is widely expressed in melanocytes, melanoma cell lines and tissues, but almost undetectable in non-melanoma cell lines|
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This gene encodes a transcription factor that containsboth basic helix-loop-helix and leucine zipper structural features.It regulates the differentiation and development of melanocytesretinal pigment epithelium and is also responsible for pigmentcell-specific transcription of the melanogenesis enzyme genes.Heterozygous mutations in the this gene cause auditory-pigmentarysyndromes, such as Waardenburg syndrome type 2 and Tietz syndrome.Alternatively spliced transcript variants encoding differentisoforms have been identified.
Wang, Y., et al. BMC Med 8, 14 (2010) :Shiohara, M., et al. Int J Lab Hematol 31(2):215-226(2009)Hershey, C.L., et al. Gene 347(1):73-82(2005)Miller, A.J., et al. J. Biol. Chem. 280(1):146-155(2005)Shibahara, S., et al. J. Investig. Dermatol. Symp. Proc. 6(1):99-104(2001)
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