GUCY2D

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GUCY2D
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases GUCY2D, CORD5, CORD6, CYGD, GUC1A4, GUC2D, LCA, LCA1, RCD2, RETGC-1, ROS-GC1, ROSGC, retGC, guanylate cyclase 2D, retinal
External IDs MGI: 105123 HomoloGene: 55442 GeneCards: 3000
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000180

NM_008192

RefSeq (protein)

NP_000171.1

NP_032218.2

Location (UCSC) Chr 17: 8 – 8.02 Mb Chr 11: 69.22 – 69.24 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Retinal guanylyl cyclase 1 also known as guanylate cyclase 2D, retinal is an enzyme that in humans is encoded by the GUCY2D (guanylate cyclase 2D) gene.[3]

Function[edit]

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.

Clinical significance[edit]

Mutations in this gene result in Leber's congenital amaurosis and cone-rod dystrophy-6 diseases.[4]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ "Entrez Gene: Guanylate cyclase 2D, membrane (retina-specific)". 
  4. ^ Perrault I, Rozet JM, Calvas P, Gerber S, Camuzat A, Dollfus H, Châtelin S, Souied E, Ghazi I, Leowski C, Bonnemaison M, Le Paslier D, Frézal J, Dufier JL, Pittler S, Munnich A, Kaplan J (December 1996). "Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis". Nat. Genet. 14 (4): 461–4. doi:10.1038/ng1296-461. PMID 8944027. 

This article incorporates text from the United States National Library of Medicine, which is in the public domain.