Molecular genetics of oculocutaneous albinism

Semin Dermatol. 1993 Sep;12(3):167-72.


Oculocutaneous albinism (OCA) is a group of autosomal recessive disorders characterized by deficient synthesis of melanin pigment. Type I (tyrosinase-deficient) OCA results from deficient enzymatic activity of tyrosinase, which catalyzes at least three steps in the melanin biosynthetic pathway. Type II (tyrosinase-positive) OCA results from abnormalities of the "P" polypeptide. Recent application of molecular genetic techniques to the study of these disorders has led to extraordinary advances in knowledge of their molecular pathogenesis, paving the way to improved diagnosis, carrier detection, and even treatment.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Albinism, Oculocutaneous / genetics*
  • Amino Acid Sequence
  • Base Sequence
  • Humans
  • Molecular Sequence Data
  • Mutation
  • Tyrosine / deficiency
  • Tyrosine / genetics


  • Tyrosine