Albinism is caused by mutations in several different genes, but one common cause is a mutation in the tyrosinase gene (TYR) located on chromosome 11q14.
Understanding Tyrosinase and Albinism
The tyrosinase gene provides instructions for making the enzyme tyrosinase. This enzyme is crucial for producing melanin, the pigment that gives color to skin, hair, and eyes. Mutations in the TYR gene lead to a deficiency or complete absence of tyrosinase activity, resulting in a lack of melanin production and the characteristic features of albinism. This specific type of albinism is known as OCA1A (oculocutaneous albinism type 1A), formerly called tyrosinase-negative albinism.
Other Genes Involved in Albinism
While TYR is a major gene associated with albinism, it's important to note that mutations in other genes can also cause different types of albinism. These genes are involved in different steps of melanin production and transport. Further research continues to uncover the complexities of this genetic condition.
Key Points:
- OCA1A: Caused by mutations in the TYR gene on chromosome 11q14.
- Tyrosinase: The enzyme responsible for melanin production.
- Melanin Deficiency: The underlying cause of albinism's characteristic features.
