TYRP1

Tyrosinase-related protein 1, also known as TYRP1, is an is_associated_with::enzyme which in humans is encoded by the TYRP1 is_associated_with::gene.

Function
Tyrp1 is a is_associated_with::melanocyte-specific gene product involved in is_associated_with::melanin synthesis. While mouse Tyrp1 possesses dihydroxyindole carboxylic acid oxidase activity, the function in human melanocytes is less clear. In addition to its role in melanin synthesis, Tyrp1 is involved in stabilizing of is_associated_with::tyrosinase protein and modulating its catalytic activity. Tyrp1 is also involved in maintenance of is_associated_with::melanosome structure and affects melanocyte proliferation and melanocyte cell death.

Clinical significance
Mutations in the mouse Tyrp1 gene are associated with brown is_associated_with::pelage and in the human TYRP1 gene with is_associated_with::oculocutaneous albinism type 3 (OCA3). An allele of TYRP1 common in Solomon Islanders results in blond hair. Although the phenotype is similar to European blond hair, this allele is not found in Europeans.

Regulation
The expression of TYRP1 is regulated by the is_associated_with::microphthalmia-associated transcription factor (MITF).

Interactions
TYRP1 has been shown to interact with is_associated_with::GIPC1.