Anti-MiTF Antibody

Description

The Microphthalmia-associated transcription factor or MiTF is encoded by the MITF gene. This transcription factor has a critical role in neural crest development and differentiation of neural crest derivatives. It is a transcription factor for tyrosinase and tyrosinase-related protein 1 and 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. The MITF gene is important as 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. Diseases such as Waardenburg syndrome type 2 and Tietz syndrome are associated with heterozygous mutations in this gene.