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

Смотрите также:

  • OCA-1 Ген (TYR Ген, ген тирозиназы, кожно-глазной альбинизм)
  • Gene: [09p23/TYRP1] 5,6-dihydroxyindole-2-carboxylic acid oxidase; tyrosinase-related protein 1 (catalase B; glycoprotein-75); albinism, oculocutaneous, type III (brown oculocutaneous albinism; OCA3; MIM:203290); xanthism (rufous oculocutan