Gene: [01q2/MYOC] myocilin; trabecular meshwork inducible glucocorticoid response protein (TIGR); glaucoma 1, open angle, A (juvenile onset; MIM:137750); [GLC1A JOAG ]
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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)." |
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REL |
GEM:00.0/GLC2A; GEM:02p21/CYP1B1(GLC3A); GEM:01p36/GLC3B. |
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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 |
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KEY |
eye, myo |
|
CLA |
coding, basic |
|
LOC |
01 q23-24 |
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MIM |
MIM: 601652 |
|
SYN |
GLC1A JOAG |
