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OCA2 Gene - GeneCards | P Protein | P Antibody 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
MC1R Gene - GeneCards | MSHR Protein | MSHR Antibody This intronless gene encodes the receptor protein for melanocyte-stimulating hormone (MSH) The encoded protein, a seven pass transmembrane G protein coupled receptor, controls melanogenesis
BRCA1 Gene - GeneCards | BRCA1 Protein | BRCA1 Antibody This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor The BRCA1 gene contains 22 exons spanning about 110 kb of DNA
SLC12A3 Gene - GeneCards | S12A3 Protein | S12A3 Antibody This gene encodes a renal thiazide-sensitive sodium-chloride cotransporter that is important for electrolyte homeostasis This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule
DRD2 Gene - GeneCards | DRD2 Protein | DRD2 Antibody A missense mutation in this gene causes myoclonus dystonia; other mutations have been associated with schizophrenia Alternative splicing of this gene results in two transcript variants encoding different isoforms