SNAI2

One copy of the SNAI2 gene is missing (deleted) in some cases of piebaldism, a condition characterized by white patches of skin and hair caused by a lack of pigmented cells (melanocytes). Loss of one copy of the gene probably reduces the production of the snail 2 protein. Shortage of the snail 2 protein may disrupt the development of melanocytes in certain areas of the skin and hair, causing the patchy loss of pigment.

In some cases of Waardenburg syndrome type II, both copies of the SNAI2 gene are missing. With no copies of the gene, the snail 2 protein is absent. Lack of snail 2 may disrupt the development of melanocytes in certain areas of the skin, hair, eyes, and inner ear, leading to hearing loss and the patchy loss of pigmentation that are characteristic features of Waardenburg syndrome type II.