Gene: [17p13/GUCY2D] guanylate cyclase 2D, membrane (retina-specific); amaurosis congenita of Leber I (LCA1; congenital retinal blindness; MIM:204000);
GEN | The GUC2D gene is 16 kb long and contains 20 exons. |
FUN | Systematic name: GTP pyrophosphate-lyase (cyclizing). Reaction catalyzed: GTP = 3',5'-cyclic GMP + pyrophosphate. Also acts on ITP and dGTP." |
CAG | About amaurosis congenita of Leber II see GEM:01p31/RPE65; and about amaurosis congenita of Leber III see GEM:19q133/CORD2." |
REF | PAT,LOC,LIN "Camuzat A
&: Hum Mol Genet, 4, N8, 1447-1452, 1995 PRO,LOC "Oliveira L &: Genomics, 22, 478-481, 1994 GEN,MUT,PAT,SEQ "Perrault I &: Nature Genet, 14, N4, 461-464, 1996 COD,SEQ,EXP "Shyjan AW &: Neuron, 9, 727-737, 1992 |
SWI | SWISSPROT: Q02846 |
KEY | nucm, sign, mtbd |
CLA | coding, basic |
LOC | 17 p13 |
MIM | MIM: 600179 |
EZN | ENZYME: 4.6.1.2 |
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