Molecular weight (DA)
92kD
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.
Dilution rate
WB 1:500-2000 ELISA 1:5000-20000
Purification process (Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
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
Protein name
P protein (Melanocyte-specific transporter protein) (Pink-eyed dilution protein homolog)
Human protein sequence Database
Q04671
Mouse protein sequence database
Q62052
Rat protein sequence database
Cellular localization
Melanosome membrane ; Multi-pass membrane protein .
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