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]

Description

cyclic nucleotide gated channel alpha 1

Protein family

Mapped to UniProt SWISS-PROT, Potential transmembrane proteins, Transporters, Voltage-gated ion channels

Chromosome

4:p12 (47937994 - 48018689)

Ensembl ID

ENSG00000198515  (ver. 71.37)

Orthologs

Mouse Cnga1: ENSMUSG00000067220

Human splice variants
Mouse splice variants