The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
備考Protein concentration is above or equal to 0.05 mg/ml. This protein is best used within three months from the date of receipt.
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Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.
pH: 8.00 Constituents: 0.79% Tris HCl, 0.3% Glutathione
eye color 2 (central brown)
eye color 3 (brown)
hair color 3 (brown)
Melanocyte-specific transporter protein
oculocutaneous albinism II
oculocutaneous albinism II (pink-eye dilution homolog, mouse)
Pink eyed dilution protein homolog
Pink-eyed dilution protein homolog
total brown iris pigmentation
機能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.
関連疾患Defects in OCA2 are the cause of albinism oculocutaneous type 2 (OCA2) [MIM:203200]. An autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. Although affected infants may appear at birth to have complete absence of melanin pigment, most patients acquire small amounts of pigment with age. Visual anomalies include decreased acuity and nystagmus. The phenotype is highly variable. The hair of affected individuals may turn darker with age, and pigmented nevi or freckles may be seen. African and African American individuals may have yellow hair and blue-gray or hazel irides. One phenotypic variant, 'brown OCA,' has been described in African and African American populations and is characterized by light brown hair and skin color and gray to tan irides.
配列類似性Belongs to the CitM (TC 2.A.11) transporter family.