DefinitionThis section has been translated automatically.
TheTYRP1 gene (TYRP1 stands for Tyrosinase Related Protein 1) is a protein-coding gene located on chromosome 9p23.
General informationThis section has been translated automatically.
TheTYRP1 gene encodes a melanosomal enzyme that belongs to the tyrosinase family and plays an important role in the melanin biosynthetic pathway. Defects in this gene are the cause of reddish oculocutaneous albinism and oculocutaneous albinism type 3 (OCA 3) with more mild ocular sympotms. This form of albinism has been described in people of African American descent. It often remains clinically undetected.
The encoded protein plays a role in melanin biosynthesis (Kenny EE et al.2012). Catalyzes the oxidation of 5,6-dihydroxyindole-2-carboxylic acid (DHICA) to indole-5,6-quinone-2-carboxylic acid in the presence of bound Cu(2+) ions but not in the presence of Zn(2+) (Lai X et al. (2017). May regulate or influence the type of melanin synthesized. To a lesser extent, it is also able to hydroxylate tyrosine and produce melanin.
LiteratureThis section has been translated automatically.
- Kenny EE et al.(2012)Melanesian blond hair is caused by an amino acid change in TYRP1. Science 336:554.
- Lai X et al. (2017) Structure of Human Tyrosinase Related Protein 1 Reveals a Binuclear Zinc Active Site Important for Melanogenesis. Angew Chem Int Ed Engl 56: 9812-9815.