|Application ||WB, IF, E|
|Calculated MW||120059 Da|
|Other Names||Retinal guanylyl cyclase 1, RETGC-1, Guanylate cyclase 2D, retinal, Rod outer segment membrane guanylate cyclase, ROS-GC, GUCY2D, CORD6, GUC1A4, GUC2D, RETGC, RETGC1|
|Target/Specificity||GUCY2D (NP_000171, 521 a.a. ~ 630 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.|
|Format||Clear, colorless solution in phosphate buffered saline, pH 7.2 .|
|Storage||Store at -20°C or lower. Aliquot to avoid repeated freezing and thawing.|
|Precautions||GUCY2D is for research use only and not for use in diagnostic or therapeutic procedures.|
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This gene encodes a retina-specific guanylate cyclase, which is a member of the membrane guanylyl cyclase family. Like other membrane guanylyl cyclases, this enzyme has a hydrophobic amino-terminal signal sequence followed by a large extracellular domain, a single membrane spanning domain, a kinase homology domain, and a guanylyl cyclase catalytic domain. In contrast to other membrane guanylyl cyclases, this enzyme is not activated by natriuretic peptides. Mutations in this gene result in Leber congenital amaurosis and cone-rod dystrophy-6 diseases.
Dengue hemorrhagic fever is associated with polymorphisms in JAK1. Silva LK, et al. Eur J Hum Genet, 2010 Jun 30. PMID 20588308.A Large-scale genetic association study of esophageal adenocarcinoma risk. Liu CY, et al. Carcinogenesis, 2010 Jul. PMID 20453000.Human variation in alcohol response is influenced by variation in neuronal signaling genes. Joslyn G, et al. Alcohol Clin Exp Res, 2010 May. PMID 20201926.Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis. Pasadhika S, et al. Invest Ophthalmol Vis Sci, 2010 May. PMID 19959640.Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India. Sundaresan P, et al. Mol Vis, 2009 Sep 4. PMID 19753312.
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