Sequence refinement of the human tyrosinase clone (oculocutaneous albinism OCA 1A)

Abstract

Human tyrosinase is often described. Mainly the mutant form, contributing to different forms of albinism appears in literature. This mutant results in a total or parcial lack of color in skin, eyes and hair, occuring among many species. This form of tyrosinase is non-functional. Normal human tyrosinase shows phenole oxidase activity and converts tyrosine to L-3,4-dihydroxyphenylalanine (L-DOPA) and further to dopachrome and is a part of the melanin biosynthesis pathway. There has been a sequence published of the oculocutaneous albinism (OCA 1A) form of human tyrosinase. But the correct sequence is often not known because of base insertions, deletions or single nucleotide polymorphisms (SNPs). This paper wants to contribute to the research about that topic and provides the new and corrected sequence of the human tyrosinase clone of oculocutaneous albinism (OCA 1A).