GUCY2D
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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.[5]
Function
This gene encodes a retina-specific
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
.
The nomenclature for members of the Gucy2 gene family is not consistent across species. In many mammals, including mice and rats, the Gucy2d gene encodes a related protein – GC-D – that is specifically expressed in a subpopulation of olfactory sensory neurons.[6] This gene is a pseudogene in humans and most other primates.[7] In rodents, the corresponding (orthologous) gene to human GUCY2D is Gucy2e.[8]
Clinical significance
Mutations in this gene result in
Leber's congenital amaurosis and cone-rod dystrophy-6 diseases.[9]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000132518 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020890 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Entrez Gene: Guanylate cyclase 2D, membrane (retina-specific)".
- PMID 7724600.
- S2CID 52800966.
- PMID 19089325.
- S2CID 21269014.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.