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Role in Waardenburg Syndrome
Variants of PAX3 were found to be related to Waardenburg Syndrome (WS), an inherited syndrome known to cause deafness and pigmentation irregularities. PAX3 is known to play an important role in the expression of melanocyte development. 6 known mutants result in either early truncation, out-of-frame reading, or loss of protein function (Tassabehji et al., 1993 ). There is still much to understand about WS such as the mechanisms, genetic background, and role of these mutations.