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The function of the P protein in melanin synthesis has yet to be determined.
gene encodes a protein that has been shown to have a dihydroxyindole carboxylic acid (DHICA) oxidase activity in the murine system.
Specifically, tyrosinase hydroxylates tyrosine to dihydroxyphenylalanine (DOPA) and subsequently dehydroxylates DOPA to DOPA-oxidase.
More than 70 mutations have been identified in tyrosinase that result in the dysfunction or lack of synthesis of this enzyme.
gene encodes a 110-kd protein with 12 putative transmembrane domains localized to the limiting membrane of the pigment granule (ie, melanosome).
Chediak-Higashi syndrome and Hermansky-Pudlak syndrome also manifest with extrapigmentary defects consisting of leukocyte, platelet, pneumocyte, and reticular cell dysfunction.
Griscelli syndrome can also manifest with immunodeficiency and neurologic defects.
Whether you chose albinism as a topic, or whether it was assigned to you, our goal is to provide accurate information about this rare genetic condition.
We also want to give you a glimpse into the lives of people who work, play, date and marry so that you’ll understand that we live pretty normal lives outside of a few considerations related to albinism.
DHICA oxidase is a catalytic step downstream from tyrosinase in the biosynthesis of melanin from tyrosine.