OCA3 E70.3

Last updated on: 21.06.2022

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Etiopathogenesis
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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.

Clinical features
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Clinically, there is a rather inconspicuous phenotype with red-brown hair. There are rather mild ocular symptoms.

Note(s)
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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.

Literature
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  1. Kenny EE et al.(2012)Melanesian blond hair is caused by an amino acid change in TYRP1. Science 336:554.
  2. 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.

Disclaimer

Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

Last updated on: 21.06.2022