Article
Oculocutaneous albinism types 1 and 3 are ER retention diseases: mutation of tyrosinase or Tyrp1 can affect the processing of both mutant and wild-type proteins.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 Oct 2001
Toyofuku K, Wada I, Valencia J C, Kushimoto T, Ferrans V J, Hearing V J
Abstract excerpt
Various types of oculocutaneous albinism (OCA) are associated with reduced pigmentation in the skin, hair, and eyes that results from mutations in genes involved in melanin synthesis. Immortal mouse melanocyte lines (melan-a, melan-b, and melan-c) provide opportune models with which to investigate the etiology of two different types of OCA (types I and III), which arise from mutations in Tyr and Tyrp1,...
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