Entity Details

Primary name PDE6C
Entity type gene
Source Source Link

Details

PrimaryID5146
RefseqGeneNG_016752
SymbolPDE6C
Namephosphodiesterase 6C
Chromosome10
Location10q23.33
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1995-09-18
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPDE6C_HUMAN

GO terms

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GOName
GO:0004114 3',5'-cyclic-nucleotide phosphodiesterase activity
GO:0005886 plasma membrane
GO:0007165 signal transduction
GO:0007601 visual perception
GO:0007603 phototransduction, visible light
GO:0030553 cGMP binding
GO:0046549 retinal cone cell development
GO:0046872 metal ion binding
GO:0047555 3',5'-cyclic-GMP phosphodiesterase activity

Diseases

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Disease IDSourceNameDescription
613093 OMIMCone dystrophy 4 (COD4)An early-onset cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs. The disease is caused by variants affecting the gene represented in this entry.
613093 OMIMCone dystrophy 4 (COD4)An early-onset cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs. The disease is caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
PDE6CCDC42BioGRID31478661 details