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CNGA1

CNGA1

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

What is the official name of the CNGA1 gene?

The official name of this gene is “cyclic nucleotide gated channel alpha 1.”

CNGA1 is the gene's official symbol. The CNGA1 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the CNGA1 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

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 UniProtThis link leads to a site outside Genetics Home Reference.:

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.

NOTE: UniProtThis link leads to a site outside Genetics Home Reference. suggests using caution when interpreting this information.

How are changes in the CNGA1 gene related to health conditions?

Genetics Home Reference provides information about retinitis pigmentosa, which is associated with changes in the CNGA1 gene.
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the CNGA1 gene's known or predicted involvement in human 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. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the CNGA1 gene.
  • Retinitis pigmentosa
  • Retinitis pigmentosa 49
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the CNGA1 gene and its association with health conditions.
OMIM
Number
Title

Where is the CNGA1 gene located?

Cytogenetic Location: 4p12

Molecular Location on chromosome 4: base pairs 47,935,014 to 48,016,678

The CNGA1 gene is located on the short (p) arm of chromosome 4 at position 12.

The CNGA1 gene is located on the short (p) arm of chromosome 4 at position 12.

More precisely, the CNGA1 gene is located from base pair 47,935,014 to base pair 48,016,678 on chromosome 4.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about CNGA1?

You and your healthcare professional may find the following resources about CNGA1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the CNGA1 gene or gene products?

  • CNCG
  • CNCG1
  • CNG1
  • CNG-1
  • RCNC1
  • RCNCa
  • RCNCalpha
  • RP49

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding CNGA1?

autosomal ; autosomal recessive ; cation ; channel ; fundus ; gene ; isoforms ; Met ; peripheral ; photoreceptor ; pigment ; plasma ; plasma membrane ; protein ; recessive ; retina ; rod photoreceptors ; second messenger ; signal transduction ; transcript ; transduction

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: May 25, 2015