CNGA1 gene

cyclic nucleotide gated channel subunit alpha 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. Multiple transcript variants have been found for this gene. [provided by RefSeq, Oct 2019]

From UniProt:

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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Retinitis pigmentosa
  • Retinitis pigmentosa 49

From UniProt:

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. [MIM:613756]

Cytogenetic Location: 4p12, which is the short (p) arm of chromosome 4 at position 12

Molecular Location: base pairs 47,935,015 to 48,016,718 on chromosome 4 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 4p12, which is the short (p) arm of chromosome 4 at position 12
  • CNCG
  • CNCG1
  • CNG-1
  • CNG1
  • RCNC1
  • RCNCa
  • RCNCalpha
  • RP49