The DCT gene encodes dopachrome tautomerase, one of the three enzymes involved in melanogenesis. It is located on chromosome 13q32.1 and comprises 8 exons.
Pathogenic variants identified so far lead to loss of function (missense, nonsense, small deletion).
The pathophysiological mechanism is linked to impaired melanogenesis in melanocytes (skin, choroid) and retinal epithelial cells (eye).
DCT