- Albinism is a congenital disorder characterized by the partial or complete absence of melanin pigment in the skin, hair, and eyes.
- The biosynthesis of melanin occurs via the tyrosine metabolic pathway, in which the enzyme tyrosinase plays a central role.
- Tyrosinase catalyzes the conversion of tyrosine to DOPA (dihydroxyphenylalanine) and then to dopaquinone, which are key steps in melanin production.
- Mutations in the tyrosinase gene (TYR) result in defective or absent enzyme activity, leading to oculocutaneous albinism type 1 (OCA1).
- This enzyme is copper-dependent and is found in melanocytes.
Other options:
(a) Beta-hydroxylase — Involved in catecholamine biosynthesis (e.g., norepinephrine production).
(b) Pyruvate dehydrogenase — Part of carbohydrate metabolism; links glycolysis to the Krebs cycle.
(c) Hydroxylase — General term for enzymes adding hydroxyl groups, but not specific to melanin synthesis.