phosphodiesterase 6H
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A PDE6H gene provides instructions for making one part (called the inhibitory gamma subunit) of an enzyme called cone-specific phosphodiesterase. This enzyme is found exclusively in light-detecting (photoreceptor) cells called cones, which are located in a specialized tissue at the back of the eye known as the retina. Cones provide vision in bright light (daylight vision), including colour vision. Other photoreceptor cells, called rods, provide vision in low light (night vision).
Normal function
A PDE6H gene provides instructions for making one part (called the inhibitory gamma subunit) of an enzyme called cone-specific phosphodiesterase. This enzyme is found exclusively in light-detecting (photoreceptor) cells called cones, which are located in a specialized tissue at the back of the eye known as the retina. Cones provide vision in bright light (daylight vision), including colour vision. Other photoreceptor cells, called rods, provide vision in low light (night vision).
When light enters the eye, it stimulates specialized pigments in photoreceptor cells. This stimulation triggers a series of chemical reactions that produce an electrical signal, which is interpreted by the brain as vision. This process is called phototransduction. Cone-specific phosphodiesterase carries out one of the reactions in this process. Specifically, the enzyme converts a molecule called cGMP to another molecule, 5'-GMP, in cones. This conversion causes certain channels on the cell membrane to close. The closing of these channels triggers the transmission of visual signals to the brain.
Conditions referring to this gene or chromosome
Other names
ACHM6
GMP-PDE gamma
phosphodiesterase 6H, cGMP-specific, cone, gamma
RCD3
retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma
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Leitura adicional e referências
- phosphodiesterase 6H; MedlinePlus, National Library of Medicine.
- Kohl S, Coppieters F, Meire F, Schaich S, Roosing S, Brennenstuhl C, Bolz S, van Genderen MM, Riemslag FC; European Retinal Disease Consortium; Lukowski R, den Hollander AI, Cremers FP, De Baere E, Hoyng CB, Wissinger B. A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. Am J Hum Genet. 2012 Sep 7;91(3):527-32. doi: 10.1016/j.ajhg.2012.07.006. Epub 2012 Aug 16.
- Kohl S, Jagle H, Wissinger B, Zobor D. Achromatopsia. 2004 Jun 24 [updated 2018 Sep 20]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1418/
- Shimizu-Matsumoto A, Itoh K, Inazawa J, Nishida K, Matsumoto Y, Kinoshita S, Matsubara K, Okubo K. Isolation and chromosomal localization of the human cone cGMP phosphodiesterase gamma cDNA (PDE6H). Genomics. 1996 Feb 15;32(1):121-4. doi: 10.1006/geno.1996.0085.
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