Gene: [11q21/TYR] tyrosinase (tyrosinase-negative albinism, I; ATN#); oculocutaneous albinism, tyrosinase-negative;
LIN | See GEM:11q21/CLA1. |
FUN | Systematic name: L-tyrosine,L-dopa:oxygen oxidoreductase. Catalyzes reaction: L-tyrosine + L-dopa + O(2) = L-dopa + dopaquinone + H(2)O." |
FAG | A TYR-like sequence is mapped to the short arm of the chr 11: GEM:11p112/TYRL." |
REF | MAP,LOC,EAG "Barton DE
&: Genomics, 3, N1, 17-24, 1988 HIS,PHE,FOG "Chain, Wilgram: Science, 155, 198-200, 1967 HIS,PHE,FOG "King, Witkop: AJHG, 29, 164-168, 1977 SEQ,PEP "Kwon BS &: PNAS, 84, N21, 7473-7477, 1987 MAP,LOC,EAG "O'Brien &: J Hered, 77, 374-378, 1986 MAP,LOC,EAG "Schiliro &: Am J Med Genet, 15, 225-231, 1983 PND "Taylor: Lancet, 1, 1307-1308, 1987 HIS,PHE,FOG "van Dorp: Clin Genet, 31, 228-242, 1987 |
SWI | SWISSPROT: P14679 |
KEY | derm, eye |
CLA | coding, basic |
LOC | 11 q21 |
MIM | MIM: 203100 |
EZN | ENZYME: 1.14.18.1 |
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