OCA2, Antibody

For Research Use Only. Not for use in diagnostic procedures.

Rabbit

1.0mg/ml (lot specific)

Small volumes of anti-OCA2 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Western Blot (WB), Immunohistochemistry (IHC)

74,312 Da

OCA2 melanosomal transmembrane protein

P protein

P protein

D15S12; P  [Similar Products]

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]

OCA2: a transporer of tyrosine, a precursor for melanin synthesis, within melanocytes. Regulates the pH of melanosomes and melanosome maturation. One of the components of the mammalian pigmentary system. Seems to regulate the postranslational 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. Belongs to the SLC13A transporter family.

Protein type: Membrane protein, integral; Membrane protein, multi-pass; Transporter

Chromosomal Location of Human Ortholog: 15q12-q13.1

Cellular Component: cytoplasm; endoplasmic reticulum membrane; endosome membrane; lysosomal membrane; melanosome membrane

Molecular Function: L-tyrosine transmembrane transporter activity; protein binding; transporter activity

Biological Process: eye pigment biosynthetic process

Disease: Albinism, Oculocutaneous, Type Ii; Skin/hair/eye Pigmentation, Variation In, 1

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