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Tyrosinase (TYR)

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

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)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPT575Hu01 Recombinant Tyrosinase (TYR) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies MAT575Hu01 Monoclonal Antibody to Tyrosinase (TYR) WB; IHC; ICC; IP.
PAT575Hu01 Polyclonal Antibody to Tyrosinase (TYR) WB; IHC; ICC; IF.
Assay Kits CLT575Hu01 CLIA Kit for Tyrosinase (TYR) CLIA assay for Antigen Detection
ELT575Hu01 ELISA Kit for Tyrosinase (TYR) Enzyme-linked immunosorbent assay for Antigen Detection

Organism species: Mus musculus (Mouse)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPT575Mu01 Recombinant Tyrosinase (TYR) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies MAT575Mu01 Monoclonal Antibody to Tyrosinase (TYR) WB; IHC; ICC; IP.
PAT575Mu01 Polyclonal Antibody to Tyrosinase (TYR) WB; IHC; ICC; IF.
Assay Kits CLT575Mu01 CLIA Kit for Tyrosinase (TYR) CLIA assay for Antigen Detection
ELT575Mu01 ELISA Kit for Tyrosinase (TYR) Enzyme-linked immunosorbent assay for Antigen Detection

Organism species: Rattus norvegicus (Rat)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPT575Ra01 Recombinant Tyrosinase (TYR) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies MAT575Ra01 Monoclonal Antibody to Tyrosinase (TYR) WB; IHC; ICC; IP.
PAT575Ra01 Polyclonal Antibody to Tyrosinase (TYR) WB; IHC; ICC; IF.
Assay Kits CLT575Ra01 CLIA Kit for Tyrosinase (TYR) CLIA assay for Antigen Detection
ELT575Ra01 ELISA Kit for Tyrosinase (TYR) Enzyme-linked immunosorbent assay for Antigen Detection

Organism species: Canis familiaris; Canine (Dog)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPT575Ca01 Recombinant Tyrosinase (TYR) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies MAT575Ca01 Monoclonal Antibody to Tyrosinase (TYR) WB; IHC; ICC; IP.
PAT575Ca01 Polyclonal Antibody to Tyrosinase (TYR) WB; IHC; ICC; IF.
Assay Kits CLT575Ca01 CLIA Kit for Tyrosinase (TYR) CLIA assay for Antigen Detection
ELT575Ca01 ELISA Kit for Tyrosinase (TYR) Enzyme-linked immunosorbent assay for Antigen Detection

Organism species: Sus scrofa; Porcine (Pig)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPT575Po01 Recombinant Tyrosinase (TYR) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies MAT575Po01 Monoclonal Antibody to Tyrosinase (TYR) WB; IHC; ICC; IP.
PAT575Po01 Polyclonal Antibody to Tyrosinase (TYR) WB; IHC; ICC; IF.
Assay Kits CLT575Po01 CLIA Kit for Tyrosinase (TYR) CLIA assay for Antigen Detection
ELT575Po01 ELISA Kit for Tyrosinase (TYR) Enzyme-linked immunosorbent assay for Antigen Detection

Organism species: Bos taurus; Bovine (Cattle)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPT575Bo01 Recombinant Tyrosinase (TYR) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies MAT575Bo01 Monoclonal Antibody to Tyrosinase (TYR) WB; IHC; ICC; IP.
PAT575Bo01 Polyclonal Antibody to Tyrosinase (TYR) WB; IHC; ICC; IF.
Assay Kits CLT575Bo01 CLIA Kit for Tyrosinase (TYR) CLIA assay for Antigen Detection
ELT575Bo01 ELISA Kit for Tyrosinase (TYR) Enzyme-linked immunosorbent assay for Antigen Detection

Organism species: Oryctolagus cuniculus (Rabbit)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPT575Rb01 Recombinant Tyrosinase (TYR) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies MAT575Rb01 Monoclonal Antibody to Tyrosinase (TYR) WB; IHC; ICC; IP.
PAT575Rb01 Polyclonal Antibody to Tyrosinase (TYR) WB; IHC; ICC; IF.
Assay Kits CLT575Rb01 CLIA Kit for Tyrosinase (TYR) CLIA assay for Antigen Detection
ELT575Rb01 ELISA Kit for Tyrosinase (TYR) Enzyme-linked immunosorbent assay for Antigen Detection

Organism species: Rhesus monkey (Simian)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPT575Mo01 Recombinant Tyrosinase (TYR) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies MAT575Mo01 Monoclonal Antibody to Tyrosinase (TYR) WB; IHC; ICC; IP.
PAT575Mo01 Polyclonal Antibody to Tyrosinase (TYR) WB; IHC; ICC; IF.
Assay Kits CLT575Mo01 CLIA Kit for Tyrosinase (TYR) CLIA assay for Antigen Detection
ELT575Mo01 ELISA Kit for Tyrosinase (TYR) Enzyme-linked immunosorbent assay for Antigen Detection

Reference

"Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment."
Genomics 9:435-445(1991) [PubMed] [Europe PMC] [Abstract]

"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]

Erratum
Proc. Natl. Acad. Sci. U.S.A. 85:6352-6352(1988)

"Induction of pigmentation in mouse fibroblasts by expression of human tyrosinase cDNA."
J. Exp. Med. 169:2029-2042(1989) [PubMed] [Europe PMC] [Abstract]

"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]

"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]

"The tyrosinase gene in gorillas and the albinism of 'Snowflake'."
Pigment Cell Res. 13:467-470(2000) [PubMed] [Europe PMC] [Abstract]

"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]

"Characteristic sequences in the upstream region of the human tyrosinase gene."
Biochim. Biophys. Acta 1009:283-286(1989) [PubMed] [Europe PMC] [Abstract]

"Functional analysis of the cDNA encoding human tyrosinase precursor."
Biochem. Biophys. Res. Commun. 162:984-990(1989) [PubMed] [Europe PMC] [Abstract]

"Molecular phylogenetics and the origins of placental mammals."
Nature 409:614-618(2001) [PubMed] [Europe PMC] [Abstract]

"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]

"Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism."
Hum. Mutat. 13:99-115(1999) [PubMed] [Europe PMC] [Abstract]

"Proteomic analysis of early melanosomes: identification of novel melanosomal proteins."
J. Proteome Res. 2:69-79(2003) [PubMed] [Europe PMC] [Abstract]

"Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes."
J. Proteome Res. 5:3135-3144(2006) [PubMed] [Europe PMC] [Abstract]

"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]

"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]

"Tyrosinase gene mutations associated with type IB ('yellow') oculocutaneous albinism."
Am. J. Hum. Genet. 48:1159-1167(1991) [PubMed] [Europe PMC] [Abstract]

Erratum
Am. J. Hum. Genet. 49:696-696(1991)

"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]

"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]

"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]

"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]

"Molecular analysis of type I-A (tyrosinase negative) oculocutaneous albinism."
Hum. Genet. 90:258-262(1992) [PubMed] [Europe PMC] [Abstract]

"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]

"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]

"Initiation codon mutation of the tyrosinase gene as a cause of human albinism."
Clin. Chim. Acta 227:17-22(1994) [PubMed] [Europe PMC] [Abstract]

"Diagnosis of oculocutaneous albinism with molecular analysis."
Am. J. Ophthalmol. 121:724-726(1996) [PubMed] [Europe PMC] [Abstract]

"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]

"Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1)."
Hum. Mutat. 10:171-174(1997) [PubMed] [Europe PMC] [Abstract]

"Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1)."
Hum. Mutat. 12:433-434(1998) [PubMed] [Europe PMC] [Abstract]

Erratum
Hum. Mutat. 13:83-83(1999)

"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]

Erratum
Hum. Genet. 108:208-208(2001)

"Insertion/deletion mutations of type I oculocutaneous albinism in Chinese patients from Taiwan."
Hum. Mutat. 14:542-542(1999) [PubMed] [Europe PMC] [Abstract]

"Mutation analysis of the tyrosinase gene in oculocutaneous albinism."
Hum. Mutat. 17:352-352(2001) [PubMed] [Europe PMC] [Abstract]

"A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1)."
J. Dermatol. Sci. 28:102-105(2002) [PubMed] [Europe PMC] [Abstract]

"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]

"A genomewide association study of skin pigmentation in a South Asian population."
Am. J. Hum. Genet. 81:1119-1132(2007) [PubMed] [Europe PMC] [Abstract]

"Genetic determinants of hair, eye and skin pigmentation in Europeans."
Nat. Genet. 39:1443-1452(2007) [PubMed] [Europe PMC] [Abstract]

"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]

"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]

"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]