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OCA2 Antibody (N-Term) Blocking peptide
Synthetic peptide
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
| Primary Accession | Q04671 |
|---|---|
| Other Accession | NP_000266.2 |
| Clone Names | 91023130 |
| Gene ID | 4948 |
|---|---|
| Other Names | P protein, Melanocyte-specific transporter protein, Pink-eyed dilution protein homolog, OCA2, D15S12, P |
| Format | Peptides are lyophilized in a solid powder format. Peptides can be reconstituted in solution using the appropriate buffer as needed. |
| Storage | Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C. |
| Precautions | This product is for research use only. Not for use in diagnostic or therapeutic procedures. |
| Name | OCA2 (HGNC:8101) |
|---|---|
| Synonyms | D15S12, P |
| Function | Contributes to a melanosome-specific anion (chloride) current that modulates melanosomal pH for optimal tyrosinase activity required for melanogenesis and the melanosome maturation (PubMed:25513726, PubMed:11310796, PubMed:15262401, PubMed:22234890). One of the components of the mammalian pigmentary system (PubMed:15262401, PubMed:18252222, PubMed:7601462). May serve as a key control point at which ethnic skin color variation is determined. Major determinant of brown and/or blue eye color (PubMed:15262401, PubMed:18252222, PubMed:7601462). Seems to regulate the post-translational processing of tyrosinase, which catalyzes the limiting reaction in melanin synthesis (By similarity). |
| Cellular Location | Melanosome membrane; Multi-pass membrane protein |
| Tissue Location | Expressed in melanocytes and retinal pigment epithelium. |
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Provided below are standard protocols that you may find useful for product applications.
Background
This gene encodes the human homologue of the mouse p(pink-eyed dilution) gene. The encoded protein is believed to be anintegral membrane protein involved in small molecule transport,specifically tyrosine - a precursor of melanin. Mutations in thisgene result in type 2 oculocutaneous albinism. [provided byRefSeq].
References
Bailey, S.D., et al. Diabetes Care 33(10):2250-2253(2010)Mengel-From, J., et al. Forensic Sci Int Genet 4(5):323-328(2010)Ibarrola-Villava, M., et al. Exp. Dermatol. 19(9):836-844(2010)Rose, J.E., et al. Mol. Med. 16 (7-8), 247-253 (2010) :Eriksson, N., et al. PLoS Genet. 6 (6), E1000993 (2010) :
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