The protein primarily involved in albinism is tyrosinase.
Understanding Tyrosinase and its Role in Albinism
Tyrosinase is an enzyme encoded by the TYR gene. This enzyme plays a crucial role in the production of melanin, the pigment responsible for skin, hair, and eye color. Mutations in the TYR gene lead to a deficiency or absence of functional tyrosinase. This deficiency directly impacts melanin synthesis, resulting in the characteristic features of albinism: very pale skin, light-colored hair, and light-colored eyes.
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Mechanism: Tyrosinase catalyzes the first few steps in the melanin synthesis pathway. Without sufficient functional tyrosinase, the pathway is disrupted, and melanin production is severely reduced or absent.
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Types of Albinism: Different mutations in the TYR gene can lead to varying degrees of albinism severity. Some individuals may have some residual melanin production, while others may have virtually no melanin at all.
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Oculocutaneous Albinism (OCA): The reference specifically mentions oculocutaneous albinism, a type of albinism significantly impacted by TYR gene mutations affecting tyrosinase production. OCA affects both the eyes and the skin.
The reference clearly states that the TYR gene makes a protein involved in melanin production, and mutations in this gene cause oculocutaneous albinism. This protein is tyrosinase.
