Primary Identifier | IPR032945 | Type | Family |
Short Name | CNGA1 |
description | cGMP-gated cation channel alpha-1 (CNGA1, also known as CNG1) is a alpha subunit of the cyclic nucleotide-gated (CNG) channel. CNG channels control the influx of Ca2+ and Na+ in response to signal-induced changes of cGMP or cAMP levels. They play a key role in olfactory and visual transduction []. Mutations in the CNGA1 gene cause retinitis pigmentosa 49 (RP49), a retinal dystrophy belonging to the group of pigmentary retinopathies [, ]. |