This element represents an enhancer that can drive expression of the tyrosinase (TYR) gene in melanocytes. It is located approximately 9 kb upstream of the TYR gene, and is characterized by a melanocyte-specific DNase I hypersensitive site. The orthologous mouse element can function as a locus control region (LCR) that confers high-level and copy number-dependent expression on the tyrosinase gene in melanocytes of transgenic mice. Mutations in the TYR gene are known to result in oculocutaneous albinism (OCA1), but since not all OCA1 cases are associated with mutations in the gene itself, it is thought that mutations in this regulatory element may account for a subset of OCA1 cases for which the molecular basis has yet to be established. [provided by RefSeq, Jan 2016]
