| Primary Identifier | IPR030532 | Type | Family |
| Short Name | MITF |
| description | MITF (microphthalmia-associated transcription factor) is a transcription factor that activates the transcription of melanocyte-specific genes []. It is also involved in melanocyte differentiation, proliferation, and apoptosis [, , , , ]. MITF has a basic-helix-loop-helix-leucine zipper (bHLHZip) structure; its leucine zipper appears to be essential for dimerisation and DNA binding []. MITF also has important roles in osteoclast and mast cell development and function [, ]. Mutations of the MITF gene are associated with Waardenburg syndrome type 2 (WS2) [, ]and and albinism-deafness (Tietz) syndrome []. |
