Article
Investigating polymorphisms in membrane-associated transporter protein SLC45A2, using sucrose transporters as a model.
Molecular medicine reports - 1 Jul 2015
Reinders Anke, Ward John M
Abstract excerpt
Solute carrier family 45 member 2 encodes the melanosomal membrane protein, membrane-associated transporter protein (MATP), of unknown function, that is required for normal melanin synthesis. The present study analyzed the effects of two human MATP mutations, D93N, which causes oculocutaneous albinism 4 (OCA4), and L374F, which is correlated with light pigmentation in European populations. Corresponding mutations...
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