The cause is a mutation in the TYRP1 gene. This gene encodes a melanosomal enzyme that belongs to the tyrosinase family and plays an important role in the melanin biosynthesis pathway.
OCA3E70.3
EtiopathogenesisThis section has been translated automatically.
Clinical featuresThis section has been translated automatically.
Clinically, there is a rather inconspicuous phenotype with red-brown hair. Mild ocular symptoms are detectable.
Note(s)This section has been translated automatically.
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.