Mouse monoclonal clone C5 anti-Microphthalmia antibody is used to tag serine phosphorylated and non-phosphorylated melanocytic isoforms of microphthalmia for detection and quantitation by techniques such as immunoblotting (doublet of 52-56 kDa), immunoprecipitation, immunohistochemistry on formalin-fixed paraffin embedded or frozen tissue sections, and gel shift. It is used as a probe to determine the roles of microphthalmia in the differentiation, development and survival of melanocytes and cells of the retinal pigment epithelium.
Microphthalmia (Mi in mouse or MITF in human) is a basic helix-loop-helix-leucine zipper (BHLH–ZIP) transcription factor involved in the differentiation, development and survival of melanocytes and cells of the retinal pigment epithelium, i.e. cells responsible for hair, skin, and eye color. It activates the expression of the melanocyte specific genes tyrosinase and TRP1 (tyrosinase-related protein 1) by binding as a homo- or heterodimer to a symmetrical DNA sequence (E box) (5′-CATGTG-3′) located within the M box found in their promoters. Microphthalmia also appears to be involved in the differentiation of mast cells, osteoclasts, basophils and natural killer cells.
Microphthalmia is expressed in a limited number of cell types including heart, mast cells, osteoclast precursors, and melanocytes. There are a number of different isoforms of microphthalmia resulting from alternative splicing and alternative promotors. These isoforms differ at their amino-termini and in their expression patterns.
