{"symbol":"OCA2","synonyms":["P","SHEP1","EYCL2","PED","BEY","EYCL3","BEY2","BEY1","D15S12","BOCA","HCL3","EYCL"],"name":"oculocutaneous albinism II","description":"This gene encodes the human homolog of the mouse p (pink-eyed dilution) gene. The encoded protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine, which is a precursor to melanin synthesis. It is involved in mammalian pigmentation, where it may control skin color variation and act as a determinant of brown or blue eye color. Mutations in this gene result in type 2 oculocutaneous albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]","ncbiEntrezGeneId":4948,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/4948","proteins":[{"symbol":"P_HUMAN","href":"/api/1.0/protein/P_HUMAN"}],"hgncRootFamilies":[]}