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Tyrosinase (TYR)

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OCAIA; OCA1A; OCA1; CMM8; Oculocutaneous Albinism IA; Monophenol monooxygenase; Tumor rejection antigen AB

Tyrosinase (TYR)
CCC A238
HGNC 12442
MGI 98880
PubMed 15773923
RGD 1589755
UniProt P14679
Wiki Tyrosinase

  • Tyrosinase (EC 1.14.18.1) catalyzes the first 2 steps, and at least 1 subsequent step, in the conversion of tyrosine to melanin. Kwon et al. screened a lambda-gt11 human melanocyte cDNA library with antibodies against hamster tyrosinase to isolate a clone for human tyrosinase. The deduced 548-amino acid protein has a molecular mass of 62,610 Da and contains glycosylation sites and histidine-rich sites that could be used for copper binding.

  • OCA1 is the gene associated with albinism, an autosomal recessive disorder. Albinism occurs when something causes the OCA1 gene to function improperly. The locus of gene OCA1 may be written "11q1.4-q2.1", meaning it is on the long arm of chromosome 11, somewhere in the range of sub-band 4 of band 1, and sub-band 1 of band 2.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA238Hu01 Recombinant Tyrosinase (TYR) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAA238Hu01 Polyclonal Antibody to Tyrosinase (TYR) WB; IHC; ICC; IP.
MAA238Hu22 Monoclonal Antibody to Tyrosinase (TYR) WB; IHC; ICC; IP.
Assay Kits SEA238Hu ELISA Kit for Tyrosinase (TYR) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Tyrosinase (TYR) Recombinant Protein Customized Service Offer
Antibodies PAA238Mu01 Polyclonal Antibody to Tyrosinase (TYR) WB; IHC; ICC; IP.
Assay Kits SEA238Mu ELISA Kit for Tyrosinase (TYR) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA238Ra01 Recombinant Tyrosinase (TYR) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAA238Ra01 Polyclonal Antibody to Tyrosinase (TYR) WB; IHC; ICC; IP.
MAA238Ra21 Monoclonal Antibody to Tyrosinase (TYR) WB; IHC; ICC; IP.
Assay Kits SEA238Ra ELISA Kit for Tyrosinase (TYR) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Sus scrofa; Porcine (Pig)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA238Po01 Recombinant Tyrosinase (TYR) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAA238Po01 Polyclonal Antibody to Tyrosinase (TYR) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Tyrosinase (TYR) CLIA Kit Customized Service Offer
n/a ELISA Kit for Tyrosinase (TYR) ELISA Kit Customized Service Offer

Organism species: Bos taurus; Bovine (Cattle)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA238Bo01 Recombinant Tyrosinase (TYR) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAA238Bo01 Polyclonal Antibody to Tyrosinase (TYR) WB; IHC; ICC; IP.
MAA238Bo21 Monoclonal Antibody to Tyrosinase (TYR) WB; IHC; ICC; IP.
Assay Kits SEA238Bo ELISA Kit for Tyrosinase (TYR) Enzyme-linked immunosorbent assay for Antigen Detection.
  1. "Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment."Genomics 9:435-445(1991) [PubMed] [Europe PMC] [Abstract]
  2. "Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus."Proc. Natl. Acad. Sci. U.S.A. 84:7473-7477(1987) [PubMed] [Europe PMC] [Abstract]
  3. ErratumProc. Natl. Acad. Sci. U.S.A. 85:6352-6352(1988)
  4. "Induction of pigmentation in mouse fibroblasts by expression of human tyrosinase cDNA."J. Exp. Med. 169:2029-2042(1989) [PubMed] [Europe PMC] [Abstract]
  5. "A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism."Proc. Natl. Acad. Sci. U.S.A. 88:5272-5276(1991) [PubMed] [Europe PMC] [Abstract]
  6. "The tyrosinase gene codes for an antigen recognized by autologous cytolytic T lymphocytes on HLA-A2 melanomas."J. Exp. Med. 178:489-495(1993) [PubMed] [Europe PMC] [Abstract]
  7. "The tyrosinase gene in gorillas and the albinism of 'Snowflake'."Pigment Cell Res. 13:467-470(2000) [PubMed] [Europe PMC] [Abstract]
  8. "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]
  9. "Characteristic sequences in the upstream region of the human tyrosinase gene."Biochim. Biophys. Acta 1009:283-286(1989) [PubMed] [Europe PMC] [Abstract]
  10. "Functional analysis of the cDNA encoding human tyrosinase precursor."Biochem. Biophys. Res. Commun. 162:984-990(1989) [PubMed] [Europe PMC] [Abstract]
  11. "Molecular phylogenetics and the origins of placental mammals."Nature 409:614-618(2001) [PubMed] [Europe PMC] [Abstract]
  12. "Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene."Hum. Mutat. 2:1-6(1993) [PubMed] [Europe PMC] [Abstract]
  13. "Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism."Hum. Mutat. 13:99-115(1999) [PubMed] [Europe PMC] [Abstract]
  14. "Proteomic analysis of early melanosomes: identification of novel melanosomal proteins."J. Proteome Res. 2:69-79(2003) [PubMed] [Europe PMC] [Abstract]
  15. "Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes."J. Proteome Res. 5:3135-3144(2006) [PubMed] [Europe PMC] [Abstract]
  16. "Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism."N. Engl. J. Med. 322:1724-1728(1990) [PubMed] [Europe PMC] [Abstract]
  17. "A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism."Proc. Natl. Acad. Sci. U.S.A. 87:3255-3258(1990) [PubMed] [Europe PMC] [Abstract]
  18. "Tyrosinase gene mutations associated with type IB ('yellow') oculocutaneous albinism."Am. J. Hum. Genet. 48:1159-1167(1991) [PubMed] [Europe PMC] [Abstract]
  19. ErratumAm. J. Hum. Genet. 49:696-696(1991)
  20. "Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions."Am. J. Med. Genet. 43:865-871(1992) [PubMed] [Europe PMC] [Abstract]
  21. "Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism."Am. J. Hum. Genet. 48:318-324(1991) [PubMed] [Europe PMC] [Abstract]
  22. "A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse."J. Clin. Invest. 87:1119-1122(1991) [PubMed] [Europe PMC] [Abstract]
  23. "Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism."Mol. Biol. Med. 8:19-29(1991) [PubMed] [Europe PMC] [Abstract]
  24. "Molecular analysis of type I-A (tyrosinase negative) oculocutaneous albinism."Hum. Genet. 90:258-262(1992) [PubMed] [Europe PMC] [Abstract]
  25. "Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA)."Am. J. Hum. Genet. 53:1173-1179(1993) [PubMed] [Europe PMC] [Abstract]
  26. "Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel."Am. J. Hum. Genet. 54:586-594(1994) [PubMed] [Europe PMC] [Abstract]
  27. "Initiation codon mutation of the tyrosinase gene as a cause of human albinism."Clin. Chim. Acta 227:17-22(1994) [PubMed] [Europe PMC] [Abstract]
  28. "Diagnosis of oculocutaneous albinism with molecular analysis."Am. J. Ophthalmol. 121:724-726(1996) [PubMed] [Europe PMC] [Abstract]
  29. "Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA)."Hum. Mol. Genet. 6:659-664(1997) [PubMed] [Europe PMC] [Abstract]
  30. "Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1)."Hum. Mutat. 10:171-174(1997) [PubMed] [Europe PMC] [Abstract]
  31. "Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1)."Hum. Mutat. 12:433-434(1998) [PubMed] [Europe PMC] [Abstract]
  32. ErratumHum. Mutat. 13:83-83(1999)
  33. "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]
  34. ErratumHum. Genet. 108:208-208(2001)
  35. "Insertion/deletion mutations of type I oculocutaneous albinism in Chinese patients from Taiwan."Hum. Mutat. 14:542-542(1999) [PubMed] [Europe PMC] [Abstract]
  36. "Mutation analysis of the tyrosinase gene in oculocutaneous albinism."Hum. Mutat. 17:352-352(2001) [PubMed] [Europe PMC] [Abstract]
  37. "A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1)."J. Dermatol. Sci. 28:102-105(2002) [PubMed] [Europe PMC] [Abstract]
  38. "Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism."Hum. Mutat. 23:630-631(2004) [PubMed] [Europe PMC] [Abstract]
  39. "A genomewide association study of skin pigmentation in a South Asian population."Am. J. Hum. Genet. 81:1119-1132(2007) [PubMed] [Europe PMC] [Abstract]
  40. "Genetic determinants of hair, eye and skin pigmentation in Europeans." Nat. Genet. 39:1443-1452(2007) [PubMed] [Europe PMC] [Abstract]
  41. "A population-based study of autosomal-recessive disease-causing mutations in a founder population."Am. J. Hum. Genet. 91:608-620(2012) [PubMed] [Europe PMC] [Abstract]
  42. "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]
  43. "Identification of a novel mutation (p.Ile198Thr) in gene TYR in a Pakistani family with nonsyndromic oculocutaneous albinism."Clin. Exp. Dermatol. 39:646-648(2014) [PubMed] [Europe PMC] [Abstract]