CNGA1

CNGA2 (Cyclic Nucleotide Gated Channel Alpha 2) is a Protein Coding gene. Diseases associated with CNGA2 include Anosmia, Isolated Congenital and Cranial Nerve Malignant Neoplasm. Among its related pathways are Organelle biogenesis and maintenance and cAMP signaling pathway. Gene Ontology (GO) annotations related to this gene include calmodulin binding and voltage-gated potassium channel activity. An important paralog of this gene is CNGA3.

Full Name

Cyclic Nucleotide Gated Channel Alpha 1

Function

Subunit of the rod cyclic GMP-gated cation channel, which is involved in the final stage of the phototransduction pathway. When light hits rod photoreceptors, cGMP concentrations decrease causing rapid closure of CNGA1/CNGB1 channels and, therefore, hyperpolarization of the membrane potential.

Biological Process

Regulation of rhodopsin mediated signaling pathway Source: Reactome
Rhodopsin mediated signaling pathway Source: Reactome
Visual perception Source: ProtInc

Cellular Location

Cell membrane

Involvement in disease

Retinitis 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.

Topology

Cytoplasmic: 1-164
Helical: 165-185
Extracellular: 186-198
Helical: 199-217
Cytoplasmic: 218-239
Helical: 240-259
Extracellular: 260-266
Helical: 267-288
Cytoplasmic: 289-299
Helical: 300-326
Extracellular: 327-369
Helical: 370-401
Cytoplasmic: 402-690