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What is the protein name for albinism?

Published in Albinism 1 min read

The protein name for albinism is P protein, also known as OCA2 melanosome transmembrane protein, which is encoded by the OCA2 gene. This protein plays a crucial role in melanin production, which is responsible for skin, hair, and eye color.

Here's why:

  • Albinism is a group of genetic disorders characterized by a lack of melanin production.
  • OCA2 is the most common type of albinism.
  • OCA2 gene mutations result in reduced P protein production, affecting the function of tyrosinase, an enzyme essential for melanin synthesis.

Therefore, the reduced P protein levels ultimately lead to the lack of melanin, causing albinism's characteristic features.

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