CNGA1 gene

cyclic nucleotide gated channel 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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

From UniProt:

Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This protein can be activated by cyclic GMP which leads to an opening of the cation channel and thereby causing a depolarization of rod photoreceptors.

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 Annotation Release 108, GRCh38.p7) (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