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CNGA1
The protein encoded by this gene is involved in phototransduction. Along with another protein, the encoded protein forms a cGMP-gated cation channel in the plasma membrane, allowing depolarization of rod photoreceptors. This represents the last step in the phototransduction pathway. Defects in this gene are a cause of retinitis pigmentosa autosomal recessive (ARRP) disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Transporters, Voltage-gated ion channels
Predicted location
Intracellular, Membrane (different isoforms)
Single cell type specificity
Cell type enriched (Rod photoreceptor cells)
Immune cell specificity
Not detected in immune cells
Cell line specificity
Cell line enhanced (CAPAN-2, RT4, U-2 OS)
Interaction
Forms a heterotetramer with CNGB1 in a 3:1 ratio. May also form cyclic nucleotide-activated homotetrameric channels, that are efficiently activated by saturating cGMP, but poorly activated by saturating cAMP compared to the heterotetramer with CNGB1.
Molecular function
Ion channel, Ligand-gated ion channel
More Types Infomation
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- Species Reactivity: Human
- Application: WB
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For Research Use Only. Not For Clinical Use.