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Genetics Home Reference: your guide to understanding genetic conditions
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PDE6B

Reviewed November 2013

What is the official name of the PDE6B gene?

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

PDE6B is the gene's official symbol. The PDE6B gene is also known by other names, listed below.

What is the normal function of the PDE6B gene?

The PDE6B gene provides instructions for making a protein that is one part (the beta subunit) of a protein complex called cGMP-PDE. This complex is found in specialized light receptor cells called rods. As part of the light-sensitive tissue at the back of the eye (the retina), rods transmit visual signals from the eye to the brain specifically in low-light conditions.

When light enters the eye, a series of rod cell proteins are turned on (activated), including cGMP-PDE. When cGMP-PDE is active, molecules called GMP within the rod cell are broken down, which triggers channels on the cell membrane to close. The closing of these channels results in the transmission of signals to the brain, which are interpreted as vision.

Does the PDE6B gene share characteristics with other genes?

The PDE6B gene belongs to a family of genes called PDE (phosphodiesterases).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the PDE6B gene related to health conditions?

autosomal dominant congenital stationary night blindness - caused by mutations in the PDE6B gene

At least one mutation in the PDE6B gene has been found to cause autosomal dominant congenital stationary night blindness, which is characterized by the inability to see in low light. This mutation changes the protein building block (amino acid) histidine to the amino acid asparagine at position 258 in the beta subunit (written as His258Asp or H258N). This change impairs the normal function of the cGMP-PDE complex, causing it to be constantly turned on (constitutively active). Because the cGMP-PDE complex is always active, the signals that rod cells send to the brain are constantly occurring, even in bright light. Visual information from rod cells is then perceived by the brain as not meaningful, resulting in night blindness.

Where is the PDE6B gene located?

Cytogenetic Location: 4p16.3

Molecular Location on chromosome 4: base pairs 587,324 to 670,891

The PDE6B gene is located on the short (p) arm of chromosome 4 at position 16.3.

The PDE6B gene is located on the short (p) arm of chromosome 4 at position 16.3.

More precisely, the PDE6B gene is located from base pair 587,324 to base pair 670,891 on chromosome 4.

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 PDE6B?

You and your healthcare professional may find the following resources about PDE6B 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 PDE6B gene or gene products?

  • GMP-PDE beta
  • PDE6B_HUMAN
  • PDEB
  • rod cGMP-phosphodiesterase beta-subunit
  • rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta

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 PDE6B?

amino acid ; asparagine ; autosomal ; autosomal dominant ; cell ; cell membrane ; congenital ; gene ; histidine ; mutation ; photoreceptor ; protein ; receptor ; retina ; rod cell ; rods ; subunit ; tissue

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

References

  • Gal A, Orth U, Baehr W, Schwinger E, Rosenberg T. Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness. Nat Genet. 1994 May;7(1):64-8. Erratum in: Nat Genet. 1994 Aug;7(4):551. (http://www.ncbi.nlm.nih.gov/pubmed/8075643?dopt=Abstract)
  • Muradov KG, Granovsky AE, Artemyev NO. Mutation in rod PDE6 linked to congenital stationary night blindness impairs the enzyme inhibition by its gamma-subunit. Biochemistry. 2003 Mar 25;42(11):3305-10. (http://www.ncbi.nlm.nih.gov/pubmed/12641462?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/5158)
  • OMIM: PHOSPHODIESTERASE 6B, cGMP-SPECIFIC, ROD, BETA (http://omim.org/entry/180072)
  • Tsang SH, Woodruff ML, Jun L, Mahajan V, Yamashita CK, Pedersen R, Lin CS, Goff SP, Rosenberg T, Larsen M, Farber DB, Nusinowitz S. Transgenic mice carrying the H258N mutation in the gene encoding the beta-subunit of phosphodiesterase-6 (PDE6B) provide a model for human congenital stationary night blindness. Hum Mutat. 2007 Mar;28(3):243-54. (http://www.ncbi.nlm.nih.gov/pubmed/17044014?dopt=Abstract)

 

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.

 
Reviewed: November 2013
Published: August 24, 2015