|Other Names||P protein, Melanocyte-specific transporter protein, Pink-eyed dilution protein homolog, OCA2, D15S12, P|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||Could be involved in the transport of tyrosine, the precursor to melanin synthesis, within the melanocyte. Regulates the pH of melanosome and the melanosome maturation. One of the components of the mammalian pigmentary system. Seems to regulate the post-translational processing of tyrosinase, which catalyzes the limiting reaction in melanin synthesis. May serve as a key control point at which ethnic skin color variation is determined. Major determinant of brown and/or blue eye color.|
|Cellular Location||Melanosome membrane; Multi-pass membrane protein|
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This gene encodes the human homologue of the mouse p(pink-eyed dilution) gene. The encoded protein is believed to be anintegral membrane protein involved in small molecule transport,specifically tyrosine - a precursor of melanin. Mutations in thisgene result in type 2 oculocutaneous albinism. [provided byRefSeq].
Bailey, S.D., et al. Diabetes Care 33(10):2250-2253(2010)Mengel-From, J., et al. Forensic Sci Int Genet 4(5):323-328(2010)Ibarrola-Villava, M., et al. Exp. Dermatol. 19(9):836-844(2010)Rose, J.E., et al. Mol. Med. 16 (7-8), 247-253 (2010) :Eriksson, N., et al. PLoS Genet. 6 (6), E1000993 (2010) :
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