TYRP2

Last updated on: 29.07.2024

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DefinitionThis section has been translated automatically.

TYRP2 stands for Tyrosine-Related Protein 2 an L-dopachrome tautomerase that plays a role in melanin biosynthesis (Pennamen P et al. 2021). The protein is encoded by the DCT gene, which is located on chromosome 13q32.1. TRYP2 catalyzes the conversion of L-dopachrome to 5,6-dihydroxyindole-2-carboxylic acid (DHICA). The encoded protein is thought to enable dopachrome isomerase activity. It is involved in the response to blue light. Located in intracellular, membrane-bound organelles and in the plasma membrane. Diseases associated with DCT include oculocutaneous albinism, type VIII (OCA8).

LiteratureThis section has been translated automatically.

  1. Pennamen P et al. (2021) Dopachrome tautomerase variants in patients with oculocutaneous albinism. Genet Med 23:479-487.
  2. Ullah MI (2022) . Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review. Genes (Basel) 13:1072

  3. Zhou S et al. (2021) Epigenetic regulation of melanogenesis. Ageing Res Rev 69:101349.


Last updated on: 29.07.2024