Entity Details

Primary name CNGA1
Entity type gene
Source Source Link

Details

PrimaryID1259
RefseqGeneNG_009193
SymbolCNGA1
Namecyclic nucleotide gated channel subunit alpha 1
Chromosome4
Location4p12
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-12
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCNGA1_HUMAN

GO terms

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GOName
GO:0005222 intracellular cAMP-activated cation channel activity
GO:0005223 intracellular cGMP-activated cation channel activity
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0007601 visual perception
GO:0016056 rhodopsin mediated signaling pathway
GO:0022400 regulation of rhodopsin mediated signaling pathway
GO:0030553 cGMP binding
GO:0042622 photoreceptor outer segment membrane

Diseases

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Disease IDSourceNameDescription
613756 OMIMRetinitis pigmentosa 49 (RP49)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

1 interaction

InteractorPartnerSourcesPublicationsLink
CNGA1SLC24A1BioGRID, HPRD12693957 details