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.
D016115:Albinism, Oculocutaneous / Q000201:enzymology / Q000209:etiology*; D000818:Animals; D002135:Calcium-Binding Proteins / Q000378:metabolism; D037281:Calnexin; D002352:Carrier Proteins / Q000378:metabolism; D004721:Endoplasmic Reticulum / Q000502:physiology*; D000091342:Endoplasmic Reticulum Chaperone BiP; D006360:Heat-Shock Proteins; D006596:Hexosaminidases / Q000737:chemistry; D019746:Intramolecular Oxidoreductases / Q000378:metabolism; D046911:Macromolecular Substances; D008543:Melanins / Q000032:analysis; D008544:Melanocytes / Q000201:enzymology / Q000378:metabolism; D008562:Membrane Glycoproteins / Q000235:genetics* / Q000378:metabolism*; D051379:Mice; D018832:Molecular Chaperones / Q000378:metabolism; D014442:Monophenol Monooxygenase / Q000235:genetics* / Q000378:metabolism*; D009154:Mutation; D010088:Oxidoreductases; D014407:Tumor Cells, Cultured