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GUCY2D
Probably plays a specific functional role in the rods and/or cones of photoreceptors. It may be the enzyme involved in the resynthesis of cGMP required for recovery of the dark state after phototransduction. Defects in GUCY2D are the cause of Leber congenital amaurosis type 1 (LCA1). LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children. Defects in GUCY2D are the cause of cone-rod dystrophy type 6 (CORD6). CORDs are inherited retinal dystrophies belonging to the group of pigmentary retinopathies. CORDs are characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. Belongs to the adenylyl cyclase class-4/guanylyl cyclase family. Note: This description may include information from UniProtKB.
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| Protein type: EC 4.6.1.2; Guanylyl cyclase; Kinase, protein; Lyase; Membrane protein, integral; Nucleotide Metabolism - purine; Protein kinase, RGC; Protein kinase, dual-specificity (receptor); RGC family; RGC group; Receptor, misc. |
| Chromosomal Location of Human Ortholog: 17p13.1 |
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Cellular Component:
integral component of plasma membrane; nuclear outer membrane; photoreceptor disc membrane
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Molecular Function:
ATP binding; GTP binding; protein binding; protein kinase activity; signaling receptor activity
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Biological Process:
intracellular signal transduction; protein phosphorylation; regulation of rhodopsin mediated signaling pathway; visual perception
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Disease: Choroidal Dystrophy, Central Areolar, 1; Cone-rod Dystrophy 6; Leber Congenital Amaurosis 1
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Reference #:
Q02846
(UniProtKB)
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Alt. Names/Synonyms: CORD5; CORD6; CYGD; guanylate cyclase 2D, membrane (retina-specific); Guanylate cyclase 2D, retinal; GUC1A4; GUC2D; GUCY2D; LCA; LCA1; RCD2; RETGC; RETGC-1; RETGC1; Retinal guanylyl cyclase 1; Rod outer segment membrane guanylate cyclase; ROS-GC; ROS-GC1; ROSGC
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Gene Symbols: GUCY2D
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Molecular weight:
120,059 Da
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Basal Isoelectric point:
7.15
Predict pI for various phosphorylation states
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