Target：P

Gene Name：OCA2 D15S12 P

Protein Name：P protein (Melanocyte-specific transporter protein) (Pink-eyed dilution protein homolog)

Human Gene Id：4948

Human Swiss Prot No：Q04671

Mouse Swiss Prot No：Q62052

Immunogen：Synthesized peptide derived from human protein . at AA range: 230-310

Specificity：P Polyclonal Antibody detects endogenous levels of protein.

Formulation：Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.

Source：Polyclonal, Rabbit,IgG

Dilution：WB 1:500-2000 ELISA 1:5000-20000

Purification：The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.

Concentration：1 mg/ml

Storage Stability：-15°C to -25°C/1 year(Do not lower than -25°C)

Observed Band(KD)：92kD

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. [provided by RefSeq, Jul 2014],

Function：disease:Defects in OCA2 are the cause of oculocutaneous albinism type 2 (OCA2) [MIM:203200]. OCA2 is an autosomal recessive form of albinism, a disorder of pigmentation in the skin, hair, and eyes. The phenotype of patients with OCA2 is typically somewhat less severe than in those with tyrosinase-deficient OCA1. There are several forms of OCA2, from typical OCA to relatively mild 'autosomal recessive ocular albinism' (AROA). OCA2 is the most prevalent type of albinism throughout the world.,disease:Human pigmentation, including eye color, has been associated with skin cancer risk.,disease:The gene OCA2 is localized to chromosome 15 at 15q11.2-q12, a region associated with Prader-Willi and Angelman syndromes, suggesting that altered expression of the OCA2 gene may be responsible for the hypopygmentation phenotype exhibited by certain individuals with these disorders.,function:Could be invo

Subcellular Location：Melanosome membrane ; Multi-pass membrane protein .

Expression： Skin,