GUCY2D

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Guanylate cyclase 2D, membrane (retina-specific)
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols GUCY2D ; CORD5; CORD6; CYGD; GUC1A4; GUC2D; LCA; LCA1; RCD2; RETGC-1; ROS-GC1; ROSGC; retGC
External IDs OMIM600179 HomoloGene55442 GeneCards: GUCY2D Gene
EC number 4.6.1.2
Orthologs
Species Human Mouse
Entrez 3000 14919
Ensembl ENSG00000132518 ENSMUSG00000020890
UniProt Q02846 P52785
RefSeq (mRNA) NM_000180 NM_008192
RefSeq (protein) NP_000171 NP_032218
Location (UCSC) Chr 17:
7.91 – 7.92 Mb
Chr 11:
69.22 – 69.24 Mb
PubMed search [1] [2]

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.[1]

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.[2]

References[edit]

  1. ^ "Entrez Gene: Guanylate cyclase 2D, membrane (retina-specific)". 
  2. ^ 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.