General description

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.

Immunogen

Recombinant fusion protein containing a sequence corresponding to amino acids 1-280 of human MITF (NP_937801.1).

Physical form

PBS with 0.02% sodium azide,50% glycerol,pH7.3.

Storage and Stability

Store at -20℃. Avoid freeze / thaw cycles.