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PDE6G

PDE6G

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

What is the official name of the PDE6G gene?

The official name of this gene is “phosphodiesterase 6G, cGMP-specific, rod, gamma.”

PDE6G is the gene's official symbol. The PDE6G 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 PDE6G gene?

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

This gene encodes the gamma subunit of cyclic GMP-phosphodiesterase, which is composed of alpha- and beta- catalytic subunits and two identical, inhibitory gamma subunits. This gene is expressed in rod photoreceptors and functions in the phototransduction signaling cascade. It is also expressed in a variety of other tissues, and has been shown to regulate the c-Src protein kinase and G-protein-coupled receptor kinase 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009]

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

Participates in processes of transmission and amplification of the visual signal. cGMP-PDEs are the effector molecules in G-protein-mediated phototransduction in vertebrate rods and cones.

How are changes in the PDE6G gene related to health conditions?

Genetics Home Reference provides information about retinitis pigmentosa, which is associated with changes in the PDE6G gene.
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the PDE6G gene's known or predicted involvement in human disease.

Retinitis pigmentosa 57 (RP57): 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.[1]This link leads to a site outside Genetics Home Reference. 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 PDE6G gene.
  • Retinitis pigmentosa[2]This link leads to a site outside Genetics Home Reference.
  • Retinitis pigmentosa 57[1]This link leads to a site outside Genetics Home Reference.
UniProt and NCBI Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
 Article
Number
Main Topic
[1]
[2]

Where is the PDE6G gene located?

Cytogenetic Location: 17q25

Molecular Location on chromosome 17: base pairs 81,650,458 to 81,657,058

The PDE6G gene is located on the long (q) arm of chromosome 17 at position 25.

The PDE6G gene is located on the long (q) arm of chromosome 17 at position 25.

More precisely, the PDE6G gene is located from base pair 81,650,458 to base pair 81,657,058 on chromosome 17.

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

Where can I find additional information about PDE6G?

You and your healthcare professional may find the following resources about PDE6G 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 PDE6G gene or gene products?

  • PDEG
  • RP57

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 PDE6G?

alternative splicing ; cones ; expressed ; fundus ; gene ; kinase ; peripheral ; photoreceptor ; pigment ; protein ; receptor ; retina ; rod photoreceptors ; rods ; splicing ; subunit ; transcript

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: July 7, 2014