Immunoprecipitation of MITF transfected lysate using anti-MITF MaxPab rabbit polyclonal antibody and Protein A Magnetic Bead (U0007), and immunoblotted with MITF purified MaxPab mouse polyclonal antibody (B01P) (H00004286-B01P).
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
OTTHUMP00000195123,OTTHUMP00000195140,homolog of mouse microphthalmia