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CNGB1

CNGB1

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

What is the official name of the CNGB1 gene?

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

CNGB1 is the gene's official symbol. The CNGB1 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 CNGB1 gene?

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

In humans, the rod photoreceptor cGMP-gated cation channel helps regulate ion flow into the rod photoreceptor outer segment in response to light-induced alteration of the levels of intracellular cGMP. This channel consists of two subunits, alpha and beta, with the protein encoded by this gene representing the beta subunit. Defects in this gene are a cause of cause of retinitis pigmentosa type 45. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]

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

Subunit of cyclic nucleotide-gated (CNG) channels, nonselective cation channels, which play important roles in both visual and olfactory signal transduction. When associated with CNGA1, it is involved in the regulation of ion flow into the rod photoreceptor outer segment (ROS), in response to light-induced alteration of the levels of intracellular cGMP.Isoform GARP2 is a high affinity rod photoreceptor phosphodiesterase (PDE6)-binding protein that modulates its catalytic properties: it is a regulator of spontaneous activation of rod PDE6, thereby serving to lower rod photoreceptor 'dark noise' and allowing these sensory cells to operate at the single photon detection limit.

How are changes in the CNGB1 gene related to health conditions?

Genetics Home Reference provides information about retinitis pigmentosa, which is associated with changes in the CNGB1 gene.
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the CNGB1 gene's known or predicted involvement in human disease.

Retinitis pigmentosa 45 (RP45): 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 CNGB1 gene.
  • Retinitis pigmentosa 45
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 CNGB1 gene and its association with health conditions.
OMIM
Number
Title

Where is the CNGB1 gene located?

Cytogenetic Location: 16q13

Molecular Location on chromosome 16: base pairs 57,882,339 to 57,979,294

The CNGB1 gene is located on the long (q) arm of chromosome 16 at position 13.

The CNGB1 gene is located on the long (q) arm of chromosome 16 at position 13.

More precisely, the CNGB1 gene is located from base pair 57,882,339 to base pair 57,979,294 on chromosome 16.

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

Where can I find additional information about CNGB1?

You and your healthcare professional may find the following resources about CNGB1 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 CNGB1 gene or gene products?

  • CNCG2
  • CNCG3L
  • CNCG4
  • CNG4
  • CNGB1B
  • GAR1
  • GARP
  • GARP2
  • RCNC2
  • RCNCb
  • RCNCbeta
  • RP45

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 CNGB1?

catalytic ; cation ; channel ; fundus ; gene ; intracellular ; isoforms ; nucleotide ; peripheral ; photoreceptor ; pigment ; protein ; sensory cells ; signal transduction ; spontaneous ; subunit ; 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: March 30, 2015