Entity Details

Primary name PDE6A
Entity type gene
Source Source Link

Details

PrimaryID5145
RefseqGeneNG_009102
SymbolPDE6A
Namephosphodiesterase 6A
Chromosome5
Location5q32
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1995-07-13
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPDE6A_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:0007223 Wnt signaling pathway, calcium modulating pathway
GO:0007601 visual perception
GO:0016056 rhodopsin mediated signaling pathway
GO:0022400 regulation of rhodopsin mediated signaling pathway
GO:0042622 photoreceptor outer segment membrane
GO:0046872 metal ion binding
GO:0047555 3',5'-cyclic-GMP phosphodiesterase activity
GO:0060041 retina development in camera-type eye
GO:0097381 photoreceptor disc membrane

Diseases

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Disease IDSourceNameDescription
613810 OMIMRetinitis pigmentosa 43 (RP43)A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. The disease is caused by variants affecting the gene represented in this entry.

Interactions

7 interactions