Gene: [01p31/RPE65] retinal pigment epithelium-specific protein (65kD); retinitis pigmentosa 20 (autosomal recessive); amaurosis congenita of Leber II (LCA2; congenital retinal blindness; MIM:204100); [LCA2 ]
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MUT |
Gu-1997 and Marlhens-1997 revealed mutations in RPE65 gene that cause autosomal recessive childhood-onset severe retinal dystrophy (amaurosis congenita of Leber, type II). Amaurosis congenita of Leber type I is caused by mutations in the gene for retinal guanylate cyclase 2D (GEM:17p13/GUCY2D)." |
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REF |
MUT "Gu SM &: Nature Genet, 17, N2, 194-197, 1997 CLO,LOC "Hamel CP &: Genomics, 20, 509-512, 1994 CLO "Hamel CP &: J Neurosci Res, 34, 414-425, 1993a CLO "Hamel CP &: JBC, 268, 15751-15757, 1993b MUT "Marlhens F &: Nature Genet, 17, N2, 139-141, 1997 CLO,LOC,SEQ,GEN "Nicoletti A &: Hum Mol Genet, 4, N4, 641-649, 1995 |
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KEY |
eye |
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CLA |
coding, basic |
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LOC |
01 p31 |
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MIM |
MIM: 180069 |
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SYN |
LCA2 |
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