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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.
Gene Name: | microphthalmia-associated transcription factor |
Synonyms: | MITF, BHLHe32, CMM8, MI, Waardenburg syndrome, type 2A, WS2, WS2A |
Target Sequences: | NM_000248 NP_000239.1 O75030 |
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