Rabbit anti-Human OCA2 Polyclonal Antibody

Uniprot Id

Q04671

Target Species

Human

Target Name

OCA2

Target Full Name

P protein

Target 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.

Target Involvement

Albinism, oculocutaneous, 2 (OCA2)

Target Subcellular Location

Melanosome membrane; Multi-pass membrane protein.

Target Protein Families

CitM (TC 2.A.11) transporter family

Target Synonyms

P; BEY; PED; BEY1; BEY2; BOCA; EYCL; HCL3; EYCL2; EYCL3; SHEP1; D15S12; OCA2

Target Background

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.