Microphthalmia-Associated Transcription Factor (MITF) ELISA Kit for Human

This gene encodes a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. 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. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

MITF: a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. Plays a critical role in the differentiation of various cell types including neural crest- derived melanocytes, mast cells, osteoclasts and optic cup-derived retinal pigment epithelium. Two isoforms are known: the M-isoform is expressed exclusively in melanocytes, while the A-isoform has a much broader range of expression. Mutations in MITF can lead to Waardenburg syndrome. Ten alternatively spliced isoforms have been described.

Protein type: Transcription factor; Oncoprotein; DNA-binding

Chromosomal Location of Human Ortholog: 3p14.2-p14.1

Cellular Component: nucleoplasm; nucleus; protein complex

Molecular Function: chromatin binding; protein binding; protein dimerization activity; RNA polymerase II transcription factor activity, enhancer binding

Biological Process: bone remodeling; camera-type eye development; cell fate commitment; cellular protein metabolic process; melanocyte differentiation; negative regulation of transcription from RNA polymerase II promoter; osteoclast differentiation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; post-translational protein modification; protein complex assembly; protein sumoylation; regulation of cell proliferation; regulation of osteoclast differentiation; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter

Disease: Albinism, Ocular, With Sensorineural Deafness; Melanoma, Cutaneous Malignant, Susceptibility To, 8; Tietz Syndrome; Waardenburg Syndrome, Type 2a