≡

Oculocutaneous Albinism II (OCA2)

[Edit]

BOCA; D15S12; PED; EYCL3, EYCL2; BEY2; EYCL; BEY; BEY1;P Protein ; Pink Eye Dilution Homolog; Eye Color 3/2; Melanocyte-Specific Transporter Protein

Oculocutaneous Albinism II (OCA2)
CCC A256
HGNC 8101
MGI 97454
PubMed 15889046
UniProt Q04671
Wiki OCA2
P protein is a protein encoded by the OCA2 gene. The P protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine - a precursor of melanin. Certain mutations in OCA2 result in type 2 oculocutaneous albinism. Another mutation in the OCA2 is found common to nearly all people with blue eyes, and has been hypothesized that all blue eyed humans share a single common ancestor with whom the mutation originated.
Tyrosinase-positive oculocutaneous albinism (OCA, type II) is an autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. Although affected infants may appear at birth to have OCA type I, or complete absence of melanin pigment, most patients with OCA type II acquire small amounts of pigment with age.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Oculocutaneous Albinism II (OCA2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Oculocutaneous Albinism II (OCA2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Oculocutaneous Albinism II (OCA2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Oculocutaneous Albinism II (OCA2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Oculocutaneous Albinism II (OCA2) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Oculocutaneous Albinism II (OCA2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Oculocutaneous Albinism II (OCA2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Oculocutaneous Albinism II (OCA2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Oculocutaneous Albinism II (OCA2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Oculocutaneous Albinism II (OCA2) ELISA Kit Customized Service Offer

Organism species: Sus scrofa; Porcine (Pig)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Oculocutaneous Albinism II (OCA2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Oculocutaneous Albinism II (OCA2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Oculocutaneous Albinism II (OCA2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Oculocutaneous Albinism II (OCA2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Oculocutaneous Albinism II (OCA2) ELISA Kit Customized Service Offer
  1. "A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism."Nature 361:72-76(1993) [PubMed] [Europe PMC] [Abstract]
  2. "Organization and sequence of the human P gene and identification of a new family of transport proteins."Genomics 26:354-363(1995) [PubMed] [Europe PMC] [Abstract]
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  4. "The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes."Science 257:1121-1124(1992) [PubMed] [Europe PMC] [Abstract]
  5. "The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH."Pigment Cell Res. 14:86-93(2001) [PubMed] [Europe PMC] [Abstract]
  6. "Inverse correlation between pink-eyed dilution protein expression and induction of melanogenesis by bafilomycin A1."Pigment Cell Res. 14:362-367(2001) [PubMed] [Europe PMC] [Abstract]
  7. "Eye colour: portals into pigmentation genes and ancestry."Trends Genet. 20:327-332(2004) [PubMed] [Europe PMC] [Abstract]
  8. "Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism."Hum. Mutat. 13:99-115(1999) [PubMed] [Europe PMC] [Abstract]
  9. "HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter."Genome Res. 22:446-455(2012) [PubMed] [Europe PMC] [Abstract]
  10. "Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2)."Hum. Mol. Genet. 3:2047-2051(1994) [PubMed] [Europe PMC] [Abstract]
  11. "Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2)."Am. J. Hum. Genet. 56:1320-1323(1995) [PubMed] [Europe PMC] [Abstract]
  12. "Novel mutations of the P gene in type II oculocutaneous albinism (OCA2)."Hum. Mutat. 10:175-177(1997) [PubMed] [Europe PMC] [Abstract]
  13. "Mutations of the human P gene associated with type II oculocutaneous albinism (OCA2)."Hum. Mutat. 12:434-434(1998) [PubMed] [Europe PMC] [Abstract]
  14. "Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population."Hum. Genet. 105:200-210(1999) [PubMed] [Europe PMC] [Abstract]
  15. "Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa."Hum. Mutat. 15:166-172(2000) [PubMed] [Europe PMC] [Abstract]
  16. "P gene as an inherited biomarker of human eye color."Cancer Epidemiol. Biomarkers Prev. 11:782-784(2002) [PubMed] [Europe PMC] [Abstract]
  17. "MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2)."Am. J. Hum. Genet. 73:638-645(2003) [PubMed] [Europe PMC] [Abstract]
  18. "A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2)."J. Dermatol. Sci. 31:189-192(2003) [PubMed] [Europe PMC] [Abstract]
  19. "Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients."J. Invest. Dermatol. 120:781-783(2003) [PubMed] [Europe PMC] [Abstract]
  20. "Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma."Eur. J. Hum. Genet. 13:913-920(2005) [PubMed] [Europe PMC] [Abstract]
  21. "A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation."Am. J. Hum. Genet. 80:241-252(2007) [PubMed] [Europe PMC] [Abstract]
  22. "The consensus coding sequences of human breast and colorectal cancers." Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
  23. "Genetic determinants of hair, eye and skin pigmentation in Europeans." Nat. Genet. 39:1443-1452(2007) [PubMed] [Europe PMC] [Abstract]
  24. "Prenatal diagnosis of oculocutaneous albinism type II and novel mutations in two Chinese families."Prenat. Diagn. 27:502-506(2007) [PubMed] [Europe PMC] [Abstract]
  25. "Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene." Am. J. Hum. Genet. 82:411-423(2008) [PubMed] [Europe PMC] [Abstract]
  26. "A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color."Am. J. Hum. Genet. 82:424-431(2008) [PubMed] [Europe PMC] [Abstract]
  27. "Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression."Hum. Genet. 123:177-187(2008) [PubMed] [Europe PMC] [Abstract]
  28. "DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics."Hum. Mutat. 34:827-835(2013) [PubMed] [Europe PMC] [Abstract]