Mislocalization of melanosomal proteins in melanocytes from mice with oculocutaneous albinism type 2

P Manga, RE Boissy, S Pifko-Hirst, BK Zhou… - Experimental eye …, 2001 - Elsevier
More than 10% of admissions worldwide to institutions for the visually impaired are due to
some form of albinism. The most common form, oculocutaneous albinism type 2, results from
mutations at the p locus. The function of the p gene is yet to be determined. It has been
shown that melanocytes from p-null mice exhibit an abnormal melanosomal ultrastructure in
addition to alterations in activity and localization of tyrosinase, a critical melanogenic
enzyme. In light of these observations, we examined tyrosinase trafficking in p-null vs …