Retina International's Scientific Newsletter

	Retina International's Scientific Newsletter
Editor's Notes from literature on Tyrosinase

Recent update from: 23.06.02

TYR

Notes

18 AA leader peptide
Highly glycosylated

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 11q14-q21
	in mouse:

Gene Data

Exons:

Primers: exons 1-5, sequencing

Protein Data

Amino acids: 529

Molecular weight	on SDS-PAGE: 58 kDa
	calculated:

Reference: (1)

TYR

Notes

TYR is bound by calnexin and calreticulin in ER
Mutated TYR remains in the ER and will not be processed

Species: Homo sapiens

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (2)

TYR

Notes

2065 bp 5'UTR
Insertion of GAGAGGGAGA in the GA region

Species: Homo sapiens

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers: exons 1-5, sequencing

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (3)

TYR

Notes

Binds two Cu ions
CuA and CuB sites are required for copper binding and catalysis
Binding of one Cu ion to one site facilitates binding to the other
Cu binding may be cooperative
CuB contains His363, 367, 389, 390
Correct polypeptide folding is essential for Cu binding
CuA and CuB are conserved in Cu binding proteins
Artificial mutations H363A and H389A abolished Cu binding
H390A increased Cu binding 2-fold
Cu is necessary but not sufficient

Species: Homo sapiens

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (4)

References:

Giebel,L.B., Musarella,M.A., and Spritz,R.A. A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism. 1991; J.Med.Genet. 28: 464-467.
Link to PubMed
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Halaban,R., Svedine,S., Cheng,E., Smicun,Y., Aron,R., and Hebert,D.N. Endoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinism. 2000; Proc.Natl.Acad.Sci.U.S.A. 97: 5889-5894.
Link to PubMed
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Matsunaga,J., Dakeishi,M., Miyamura,Y., and Tomita,Y. Sequence analysis of the human tyrosinase promoter from a patient with tyrosinase-negative oculocutaneous albinism. 1997; Pigment Cell Res. 10: 64-67.
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Spritz,R.A., Ho,L., Furumura,M., and Hearing,V.J., Jr. Mutational analysis of copper binding by human tyrosinase. 1997; J.Invest.Dermatol. 109: 207-212.
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Contact the editor: irpamp@irpa.org	This site is maintained and edited by Dr. rer. medic. Markus Preising, Dipl.Biol. Molecular Genetics Laboratory Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics University of Regensburg Head: Prof. Dr. med. Birgit Lorenz