Question:

Which enzyme is responsible for albinism?

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Remember: Albinism is due to a tyrosinase deficiency — an enzyme vital for melanin biosynthesis. It’s a classic GPAT question from the Biochemistry section.
Updated On: May 27, 2025
  • Beta-hydroxylase
  • Pyruvate dehydrogenase
  • Hydroxylase
  • Tyrosinase
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The Correct Option is D

Solution and Explanation

  • 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.
 

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