Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

PDE6A

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

What is the official name of the PDE6A gene?

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

PDE6A is the gene's official symbol. The PDE6A gene is also known by other names, listed below.

What is the normal function of the PDE6A gene?

From NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/5145):

This gene encodes the cyclic-GMP (cGMP)-specific phosphodiesterase 6A alpha subunit, expressed in cells of the retinal rod outer segment. The phosphodiesterase 6 holoenzyme is a heterotrimer composed of an alpha, beta, and two gamma subunits. cGMP is an important regulator of rod cell membrane current, and its dynamic concentration is established by phosphodiesterase 6A cGMP hydrolysis and guanylate cyclase cGMP synthesis. The protein is a subunit of a key phototransduction enzyme and participates in processes of transmission and amplification of the visual signal. Mutations in this gene have been identified as one cause of autosomal recessive retinitis pigmentosa. [provided by RefSeq, Jul 2008]

From UniProt (http://www.uniprot.org/uniprot/P16499):

This protein participates in processes of transmission and amplification of the visual signal.

How are changes in the PDE6A gene related to health conditions?

Genetics Home Reference provides information about retinitis pigmentosa, which is associated with changes in the PDE6A gene.
UniProt (http://www.uniprot.org/uniprot/P16499) provides the following information about the PDE6A gene's known or predicted involvement in human disease.

Retinitis pigmentosa 43 (RP43): 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 Gene (http://www.ncbi.nlm.nih.gov/gene/5145) lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the PDE6A gene.
  • Retinitis pigmentosa 43
OMIM.org (http://omim.org/), a catalog designed for genetics professionals and researchers, provides the following information about the PDE6A gene and its association with health conditions.
OMIM
Number
Title

Where is the PDE6A gene located?

Cytogenetic Location: 5q31.2-q34

Molecular Location on chromosome 5: base pairs 149,857,955 to 149,944,792

The PDE6A gene is located on the long (q) arm of chromosome 5 between positions 31.2 and 34.

The PDE6A gene is located on the long (q) arm of chromosome 5 between positions 31.2 and 34.

More precisely, the PDE6A gene is located from base pair 149,857,955 to base pair 149,944,792 on chromosome 5.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about PDE6A?

You and your healthcare professional may find the following resources about PDE6A 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 PDE6A gene or gene products?

  • CGPR-A
  • PDEA
  • RP43

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding PDE6A?

autosomal ; autosomal recessive ; cell ; cell membrane ; enzyme ; expressed ; fundus ; gene ; hydrolysis ; peripheral ; photoreceptor ; pigment ; protein ; recessive ; retina ; rod cell ; subunit ; synthesis

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Published: January 27, 2015