Tyrosinase (TYR) Human Recombinant Protein

This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds. Catalyzes the rate-limiting conversions of tyrosine to DOPA, DOPA to DOPA-quinone and possibly 5,6-dihydroxyindole to indole-5,6 quinone.

Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment.Giebel L.B., Strunk K.M., Spritz R.A.Genomics 9:435-445(1991) Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus.Kwon B.S., Haq A.K., Pomerantz S.H., Halaban R.Proc. Natl. Acad. Sci. U.S.A. 84:7473-7477(1987) ErratumKwon B.S., Haq A.K., Pomerantz S.H., Halaban R.Proc. Natl. Acad. Sci. U.S.A. 85:6352-6352(1988) Induction of pigmentation in mouse fibroblasts by expression of human tyrosinase cDNA.Bouchard B., Fuller B.B., Vijayasaradhi S., Houghton A.N.J. Exp. Med. 169:2029-2042(1989) A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism.Chintamaneni C.D., Halaban R., Kobayashi Y., Witkop C.J., Kwon B.S.Proc. Natl. Acad. Sci. U.S.A. 88:5272-5276(1991) The tyrosinase gene codes for an antigen recognized by autologous cytolytic T lymphocytes on HLA-A2 melanomas.Brichard V., van Pel A., Woelfel T., Woelfel C., de Plaen E., Lethe B.G., Coulie P., Boon T.J. Exp. Med. 178:489-495(1993) The tyrosinase gene in gorillas and the albinism of 'Snowflake'.Martinez-Arias R., Comas D., Andres A., Abello M.-T., Domingo-Roura X., Bertranpetit J.Pigment Cell Res. 13:467-470(2000) Characteristic sequences in the upstream region of the human tyrosinase gene.Kikuchi H., Miura H., Yamamoto H., Takeuchi T., Dei T., Watanabe M.Biochim. Biophys. Acta 1009:283-286(1989) Functional analysis of the cDNA encoding human tyrosinase precursor.Takeda A., Tomita Y., Okinaga S., Tagami H., Shibahara S.Biochem. Biophys. Res. Commun. 162:984-990(1989) Molecular phylogenetics and the origins of placental mammals.Murphy W.J., Eizirik E., Johnson W.E., Zhang Y.-P., Ryder O.A., O'Brien S.J.Nature 409:614-618(2001) Molecular basis of type I (tyrosinase-related) oculocutaneous albinism mutations and polymorphisms of the human tyrosinase gene.Oetting W.S., King R.A.Hum. Mutat. 2:1-6(1993) Molecular basis of albinism mutations and polymorphisms of pigmentation genes associated with albinism.Oetting W.S., King R.A.3.3.CO;2-3>Hum. Mutat. 13:99-115(1999) Proteomic analysis of early melanosomes identification of novel melanosomal proteins.Basrur V., Yang F., Kushimoto T., Higashimoto Y., Yasumoto K., Valencia J., Muller J., Vieira W.D., Watabe H., Shabanowitz J., Hearing V.J., Hunt D.F., Appella E.J. Proteome Res. 2:69-79(2003) Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes.Chi A., Valencia J.C., Hu Z.-Z., Watabe H., Yamaguchi H., Mangini N.J., Huang H., Canfield V.A., Cheng K.C., Yang F., Abe R., Yamagishi S., Shabanowitz J., Hearing V.J., Wu C., Appella E., Hunt D.F.J. Proteome Res. 5:3135-3144(2006) Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism.Spritz R.A., Strunk K.M., Giebel L.B., King R.A.N. Engl. J. Med. 322:1724-1728(1990) A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism.Giebel L.B., Strunk K.M., King R.A., Hanifin J.M., Spritz R.A.Proc. Natl. Acad. Sci. U.S.A. 87:3255-3258(1990) Tyrosinase gene mutations associated with type IB ('yellow') oculocutaneous albinism.Giebel L.B., Tripathi R.K., Strunk K.M., Hanifin J.M., Jackson C.E., King R.A., Spritz R.A.Am. J. Hum. Genet. 48:1159-1167(1991) ErratumGiebel L.B., Tripathi R.K., Strunk K.M., Hanifin J.M., Jackson C.E., King R.A., Spritz R.A.Am. J. Hum. Genet. 49:696-696(1991) Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.Tripathi R.K., Strunk K.M., Giebel L.B., Weleber R.G., Spritz R.A.Am. J. Med. Genet. 43:865-871(1992) Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism.Spritz R.A., Strunk K.M., Hsieh C.-L., Sekhon G.S., Francke U.Am. J. Hum. Genet. 48:318-324(1991) A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse.Giebel L.B., Tripathi R.K., King R.A., Spritz R.A.J. Clin. Invest. 87:1119-1122(1991) Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism.King R.A., Mentink M.M., Oetting W.S.Mol. Biol. Med. 8:19-29(1991) Molecular analysis of type I-A (tyrosinase negative) oculocutaneous albinism.Oetting W.S., King R.A.Hum. Genet. 90:258-262(1992) Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA) .Tripathi R.K., Bundey S., Musarella M.A., Droetto S., Strunk K.M., Holmes S.A., Spritz R.A.Am. J. Hum. Genet. 53:1173-1179(1993) Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.Gershoni-Baruch R., Rosenmann A., Droetto S., Holmes S.A., Tripathi R.K., Spritz R.A.Am. J. Hum. Genet. 54:586-594(1994) Initiation codon mutation of the tyrosinase gene as a cause of human albinism.Breimer L.H., Winder A.F., Jay B., Jay M.Clin. Chim. Acta 227:17-22(1994) Diagnosis of oculocutaneous albinism with molecular analysis.Summers C.G., Oetting W.S., King R.A.Am. J. Ophthalmol. 121:724-726(1996) Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA) .Morell R., Spritz R.A., Ho L., Pierpont J., Guo W., Friedman T.B., Asher J.H. Jr.Hum. Mol. Genet. 6:659-664(1997) Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1) .Spritz R.A., Oh J., Fukai K., Holmes S.A., Ho L., Chitayat D., France T.D., Musarella M.A., Orlow S.J., Schnur R.E., Weleber R.G., Levin A.V.3.0.CO;2-X>Hum. Mutat. 10:171-174(1997) Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1) .Oetting W.S., Fryer J.P., King R.A.3.3.CO;2-7>Hum. Mutat. 12:433-434(1998) ErratumOetting W.S., Fryer J.P., King R.A.Hum. Mutat. 13:83-83(1999) Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population.Passmore L.A., Kaesmann-Kellner B., Weber B.H.F.Hum. Genet. 105:200-210(1999) ErratumPassmore L.A., Kaesmann-Kellner B., Weber B.H.F.Hum. Genet. 108:208-208(2001) Insertion/deletion mutations of type I oculocutaneous albinism in Chinese patients from Taiwan.Tsai C.-H., Tsai F.-J., Wu J.-Y., Lin S.-P., Chang J.-G., Yang C.-F., Lee C.-C.3.0.CO;2-3>Hum. Mutat. 14:542-542(1999) Mutation analysis of the tyrosinase gene in oculocutaneous albinism.Camand O., Marchant D., Boutboul S., Pequignot M., Odent S., Dollfus H., Sutherland J., Levin A., Menasche M., Marsac C., Dufier J.-L., Heon E., Abitbol M.Hum. Mutat. 17:352-352(2001) A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1) .Nakamura E., Miyamura Y., Matsunaga J., Kano Y., Dakeishi-Hara M., Tanita M., Kono M., Tomita Y.J. Dermatol. Sci. 28:102-105(2002) Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism.Opitz S., Kaesmann-Kellner B., Kaufmann M., Schwinger E., Zuehlke C.Hum. Mutat. 23:630-631(2004) A genomewide association study of skin pigmentation in a South Asian population.Stokowski R.P., Pant P.V.K., Dadd T., Fereday A., Hinds D.A., Jarman C., Filsell W., Ginger R.S., Green M.R., van der Ouderaa F.J., Cox D.R.Am. J. Hum. Genet. 81:1119-1132(2007) Genetic determinants of hair, eye and skin pigmentation in Europeans.Sulem P., Gudbjartsson D.F., Stacey S.N., Helgason A., Rafnar T., Magnusson K.P., Manolescu A., Karason A., Palsson A., Thorleifsson G., Jakobsdottir M., Steinberg S., Palsson S., Jonasson F., Sigurgeirsson B., Thorisdottir K., Ragnarsson R., Benediktsdottir K.R., Aben K.K., Kiemeney L.A., Olafsson J.H., Gulcher J., Kong A., Thorsteinsdottir U., Stefansson K.Nat. Genet. 39:1443-1452(2007) A population-based study of autosomal-recessive disease-causing mutations in a founder population.Chong J.X., Ouwenga R., Anderson R.L., Waggoner D.J., Ober C.Am. J. Hum. Genet. 91:608-620(2012) DNA variations in oculocutaneous albinism an updated mutation list and current outstanding issues in molecular diagnostics.Simeonov D.R., Wang X., Wang C., Sergeev Y., Dolinska M., Bower M., Fischer R., Winer D., Dubrovsky G., Balog J.Z., Huizing M., Hart R., Zein W.M., Gahl W.A., Brooks B.P., Adams D.R.Hum. Mutat. 34:827-835(2013) Identification of a novel mutation (p.Ile198Thr) in gene TYR in a Pakistani family with nonsyndromic oculocutaneous albinism.Shah S.A., Din S.U., Raheem N., Daud S., Mubeen J., Nadeem A., Tayyab M., Baloch D.M., Babar M.E., Ahmad J.Clin. Exp. Dermatol. 39:646-648(2014) +Additional computationally mapped references.<p>Provides general information on the entry.

Small volumes of TYR recombinant protein vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

MBS951131 is a recombinant protein targeting TYR. Also known as Recombinant Human Tyrosinase, partial. Host: E Coli or Yeast or Baculovirus or Mammalian Cell.