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Guanylate Cyclase 2D (GUCY2D)

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CORD6; LCA; GUC2D; GUC1A4; CORD5; RETGC-1; ROS-GC1; CYGD; LCA1; Retinal guanylyl cyclase 1; Cone Rod Dystrophy 5/6; Rod outer segment membrane guanylate cyclase

Guanylate Cyclase 2D (GUCY2D)
CCC H943
HGNC 4689
MGI 105123
PubMed 22695961
RGD 620438
UniProt Q02846
Wiki GUCY2D
GUCY2D 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. This RefSeq record was created from transcript and genomic sequence data because transcript sequence consistent with the reference genome assembly was not available for all regions of the RefSeq transcript. The extent of this transcript is supported by transcript alignments.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Guanylate Cyclase 2D (GUCY2D) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Guanylate Cyclase 2D (GUCY2D) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Guanylate Cyclase 2D (GUCY2D) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Guanylate Cyclase 2D (GUCY2D) CLIA Kit Customized Service Offer
n/a ELISA Kit for Guanylate Cyclase 2D (GUCY2D) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Guanylate Cyclase 2D (GUCY2D) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Guanylate Cyclase 2D (GUCY2D) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Guanylate Cyclase 2D (GUCY2D) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Guanylate Cyclase 2D (GUCY2D) CLIA Kit Customized Service Offer
n/a ELISA Kit for Guanylate Cyclase 2D (GUCY2D) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Guanylate Cyclase 2D (GUCY2D) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Guanylate Cyclase 2D (GUCY2D) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Guanylate Cyclase 2D (GUCY2D) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Guanylate Cyclase 2D (GUCY2D) CLIA Kit Customized Service Offer
n/a ELISA Kit for Guanylate Cyclase 2D (GUCY2D) ELISA Kit Customized Service Offer
  1. "Molecular cloning of a retina-specific membrane guanylyl cyclase."Neuron 9:727-737(1992) [PubMed] [Europe PMC] [Abstract]
  2. "Human retinal guanylate cyclase (GUC2D) maps to chromosome 17p13.1."Genomics 22:478-481(1994) [PubMed] [Europe PMC] [Abstract]
  3. "Catalytic mechanism of the adenylyl and guanylyl cyclases: modeling and mutational analysis."Proc. Natl. Acad. Sci. U.S.A. 94:13414-13419(1997) [PubMed] [Europe PMC] [Abstract]
  4. "Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis."Nat. Genet. 14:461-464(1996) [PubMed] [Europe PMC] [Abstract]
  5. "A retGC-1 mutation in autosomal dominant cone-rod dystrophy."Am. J. Hum. Genet. 63:651-654(1998) [PubMed] [Europe PMC] [Abstract]
  6. "Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy."Hum. Mol. Genet. 7:1179-1184(1998) [PubMed] [Europe PMC] [Abstract]
  7. "Functional consequences of a rod outer segment membrane guanylate cyclase (ROS-GC1) gene mutation linked with Leber's congenital amaurosis."Biochemistry 38:509-515(1999) [PubMed] [Europe PMC] [Abstract]
  8. "Mutational analysis and clinical correlation in Leber congenital amaurosis."Ophthalmic Genet. 21:135-150(2000) [PubMed] [Europe PMC] [Abstract]
  9. "Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutations."Arch. Ophthalmol. 120:1325-1330(2002) [PubMed] [Europe PMC] [Abstract]
  10. "Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance."Hum. Mutat. 21:170-171(2003) [PubMed] [Europe PMC] [Abstract]
  11. "Novel complex GUCY2D mutation in Japanese family with cone-rod dystrophy."Invest. Ophthalmol. Vis. Sci. 45:1480-1485(2004) [PubMed] [Europe PMC] [Abstract]
  12. "Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effects."Mol. Vis. 10:297-303(2004) [PubMed] [Europe PMC] [Abstract]
  13. "Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles."Invest. Ophthalmol. Vis. Sci. 46:3052-3059(2005) [PubMed] [Europe PMC] [Abstract]
  14. "Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients."Invest. Ophthalmol. Vis. Sci. 48:4284-4290(2007) [PubMed] [Europe PMC] [Abstract]
  15. "Patterns of somatic mutation in human cancer genomes." Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract]
  16. "New mutation, P575L, in the GUCY2D gene in a family with autosomal dominant progressive cone degeneration."Arch. Ophthalmol. 126:397-403(2008) [PubMed] [Europe PMC] [Abstract]
  17. "Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration."Invest. Ophthalmol. Vis. Sci. 49:5015-5023(2008) [PubMed] [Europe PMC] [Abstract]
  18. "A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis."Eur. J. Hum. Genet. 18:1121-1126(2010) [PubMed] [Europe PMC] [Abstract]
  19. "Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies."Mol. Vis. 17:1103-1109(2011) [PubMed] [Europe PMC] [Abstract]
  20. "A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family."Mol. Vis. 17:3271-3278(2011) [PubMed] [Europe PMC] [Abstract]
  21. "Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis."PLoS ONE 6:E19458-E19458(2011) [PubMed] [Europe PMC] [Abstract]
  22. "A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy."Mol. Vis. 19:1039-1046(2013) [PubMed] [Europe PMC] [Abstract]
  23. "A detailed phenotypic description of autosomal dominant cone dystrophy due to a de novo mutation in the GUCY2D gene."Eye 28:481-487(2014) [PubMed] [Europe PMC] [Abstract]