Gene: [0Xq21/CHM] geranylgeranyltransferase, component A1; choroideremia (tapeto-choroidal dystrophy, progressive; TCD);

REL

GEM:01q4/CHML; GEM:14q112/RABGGTA.

REF

CLO,PRO,SEQ,LOC,MUT,PAT "Cremers FPM &: Nature, 347, N6294, 674-677, 1990
CLO,SEQ "Den Hurk JA &: AJHG, 50, 1195-1202, 1992
REV,CLO,LIN,FAG "Dryja &: Nature, 347, N6294, 614, 1990
LIN,LOC,MAG "Gal A &: Hum Genet, 73, 123-126, 1986
LOC,PND "Hodgson SV &: Hum Genet, 75, 286-290, 1987
CLO,SEQ "Merry DE &: PNAS, 89, 2135-2139, 1992
LOC,LIN "Schwartz M &: Hum Genet, 78, 156-160, 1988
CLO,SEQ,MUT "Seabra MC &: Science, 259, 377-381, 1993
LOC,LIN "Uhlhaas &: CCG, 46, (HGM9), 707, 1987
CLO,SEQ,MUT "van Bokhoven H &: Hum Mol Genet, 3, 1041-1046, 1994a
CLO,SEQ,MUT "van Bokhoven H &: Hum Mol Genet, 3, 1047-1051, 1994b

KEY

neu, eye

CLA

coding, basic

LOC

0X q21.1-.2

MIM

MIM: 303100

EZN

ENZYME: 2.5.1.?