Microphthalmia Transcription Factor (MiTF) (In the pipeline)
Microphthalmia-associated Transcription Factor (MiTF) is a transcription factor involved in the differentiation of a number of cell types including mast cells, osteoclasts, neural crest-derived melanocytes, and optic cup-derived retinal pigment epithelium. Mutations in the MiTF gene are clinically indicated in auditory pigmentary syndromes including Waardenburg syndrome type II, type IIa, and Tietze syndrome. MiTF has been reported as a highly specific and sensitive marker for malignant melanoma, including some spindle-cell variants, as well as a relatively rare class of tumors known as PEComas, which are tumors showing perivascular epithelioid cell differentiation. Anti-MiTF is also able to recognize serine phosphorylated and non-phosphorylated melanocytic isoforms of microphthalmia.
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