GUCY2D

Source: Wikipedia, the free encyclopedia.
GUCY2D
Available structures
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Ensembl
UniProt
RefSeq (mRNA)

NM_000180

NM_008192

RefSeq (protein)

NP_000171

NP_032218

Location (UCSC)Chr 17: 8 – 8.02 MbChr 11: 69.11 – 69.13 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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.[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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000132518Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020890Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: Guanylate cyclase 2D, membrane (retina-specific)".
  6. PMID 7724600
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  7. .
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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