Gene: [01q2/MYOC] myocilin; trabecular meshwork inducible glucocorticoid response protein (TIGR); glaucoma 1, open angle, A (juvenile onset; MIM:137750); [GLC1A JOAG ]


COM

Belmouden-1997 assigned the MYOC gene to Chr 1q23-25, most likely to 1q24. Kubota-1997 refined the location to Chr 1q23-24 by fluorescence in situ hybridization."

PAT

Primary open angle glaucoma is a common ocular disorder with a characteristic degeneration of the optic nerve and visual field defects that is often associated with an elevated intraocular pressure."

HET

Five forms of adult-onset primary open angle glaucoma had been distinguished by linkage studies: GLC1B, mapped to Chr 2q1 (GEM:02q1/GLC1B); GLC1C, mapped to Chr 3q2 (GEM:03q2/GLC1C); GLC1D, mapped to Chr 8q23 (GEM:08q23/GLC1D); GLC1E, mapped to Chr 10p15-p14 (GEM:10p1/GLC1E); and GLC1F, not mapped yet (GEM:00.0/GLC1F)."

REL

GEM:00.0/GLC2A; GEM:02p21/CYP1B1(GLC3A); GEM:01p36/GLC3B.

REF

MUT "Adam MF &: Hum Mol Genet, 6, N12, 2091-2097, 1997
LOC,LIN "Belmouden A &: Genomics, 39, N3, 348-358, 1997
CLO "Escribano J &: J Biochem, 118, N5, 921-931, 1995
LOC,LIN "Graff C &: Hum Genet, 96, N3, 285-289, 1995
CLO,TIS,LIN,LOC "Kubota R &: Genomics, 41, 360-369, 1997
LIN,LOC "Morissette J &: AJHG, 56, N6, 1431-1442, 1995
LOC,LIN "Richards JE &: AJHG, 54, 62-70, 1994
LOC,LIN "Sheffield VC &: Nature Genet, 4, 47-50, 1993
CLO,SEQ,MUT "Stone EM &: Science, 275, 668-670, 1997
LIN,LOC "Sunden SLF &: Genome Res, 6, N9, 862-869, 1996
MUT "Suzuki Y &: AJHG, 61, N5, 1202-1204, 1997
LOC,LIN "Wiggs JL &: Genomics, 21, 299-303, 1994

KEY

eye, myo

CLA

coding, basic

LOC

01 q23-24

MIM

MIM: 601652

SYN

GLC1A JOAG