phosphodiesterase 6C
Zuletzt aktualisiert 11. Aug 2025
Erfüllt die redaktionelle Richtlinien
- HerunterladenHerunterladen
- Teilen
- Language
- Diskussion
- Audio-Version
- Zu bevorzugten Quellen bei Google hinzufügen
Der PDE6C gene provides instructions for making one part (called the alpha-prime 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
Der PDE6C gene provides instructions for making one part (called the alpha-prime 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
ACHM5
cGMP phosphodiesterase 6C
COD4
cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'
PDEA2
phosphodiesterase 6C, cGMP-specific, cone, alpha prime
Related patient information and medicines
Patient information leaflet
Alpha-Blocker
Alpha-blockers are medicines that are mainly used to treat high blood pressure (hypertension) and problems with passing urine in men who have enlargement of the prostate gland. Prostate gland enlargement is... Taking other medicines There are a number of medicines that should usually be avoided if you also take an alpha-blocker. These include:.
Patient information leaflet
Weibliche sexuelle Funktionsstörung
Genito-pelvic pain/penetration disorder : you have difficulty with vaginal penetration, pain during penetration, fear or anxiety about pain before, during, or after penetration, or tightening or tensing of pelvic floor muscles which ... Viagra® and phosphodiesterase type 5 inhibitors The introduction of the 'blue pill' revolutionised the treatment.
Patient information leaflet
Orale Bronchodilatatoren
Dies sind beta 2 agonists (salbutamol, bambuterol and terbutaline) und methylxanthines (theophylline and aminophyl. ... sind Medikamenten that are used to treat breathing problems in people with lung diseases wie zum Beispiel asthma and chronic obstructive pulmonary diseaseHowever, it is thought that they stop a substance in the body, called.
Patient information leaflet
Erektile Dysfunktion
You take a dose before you plan to h... They work by increasing the blood flow to your penis. They do this by affecting cGMP, the chemical involved in widening (dilating) the blood vessels of the penis when you are sexually aroused. Because of the way they work, these Medikamenten are called phosphodiesterase type 5 (PDE5) inhibitors. Note : keine of.
Medicine leaflet
Sildenafil bei erektiler Dysfunktion
Sildenafil is for the treatment of adult men with erectile dysfunction. About sildenafil for erectile dysfunction Type of medicine Phosphodiesterase-Typ-5-Hemmer Used for Erectile dysfunction in adult men Also called Aronix®; Liberize®; Viagra®; Vizarsin®; Zamantos®; Available as Tablets Erectile dysfunction (sometimes called impotence) means.
Medicine leaflet
Vardenafil bei erektiler Dysfunktion
Vardenafil is for the treatment of adult men with erectile dysfunction. About vardenafil Type of medicine Phosphodiesterase-Typ-5-Hemmer Used for Erectile dysfunction in adult men Also called Levitra® Available as Tablets Erectile dysfunction (sometimes called impotence) means that you cannot get or maintain a proper erection. There are.
Weiterführende Lektüre und Referenzen
- phosphodiesterase 6C; MedlinePlus, National Library of Medicine.
- Chang B, Grau T, Dangel S, Hurd R, Jurklies B, Sener EC, Andreasson S, Dollfus H, Baumann B, Bolz S, Artemyev N, Kohl S, Heckenlively J, Wissinger B. A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene. Proc Natl Acad Sci U S A. 2009 Nov 17;106(46):19581-6. doi: 10.1073/pnas.0907720106. Epub 2009 Nov 3.
- Grau T, Artemyev NO, Rosenberg T, Dollfus H, Haugen OH, Cumhur Sener E, Jurklies B, Andreasson S, Kernstock C, Larsen M, Zrenner E, Wissinger B, Kohl S. Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia. Hum Mol Genet. 2011 Feb 15;20(4):719-30. doi: 10.1093/hmg/ddq517. Epub 2010 Dec 1.
- 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/
- Thiadens AA, den Hollander AI, Roosing S, Nabuurs SB, Zekveld-Vroon RC, Collin RW, De Baere E, Koenekoop RK, van Schooneveld MJ, Strom TM, van Lith-Verhoeven JJ, Lotery AJ, van Moll-Ramirez N, Leroy BP, van den Born LI, Hoyng CB, Cremers FP, Klaver CC. Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. Am J Hum Genet. 2009 Aug;85(2):240-7. doi: 10.1016/j.ajhg.2009.06.016. Epub 2009 Jul 16.
Artikelverlauf
Artikel auch verfügbar in Englisch, Deutsch, Spanisch, Französisch, Italienisch, Portugiesisch, Hindi, Hebräisch, Arabisch, und Schwedisch.
11. Aug 2025 | Neueste Version
1 Jan 2015 | Ursprünglich veröffentlicht
Nehmen Sie an der Diskussion teil
Teilen Sie Ihre Gedanken oder Erfahrungen mit anderen in unserem Patientengemeinschaften.
Fragen, teilen, verbinden.
Durchsuchen Sie Diskussionen, stellen Sie Fragen und teilen Sie Erfahrungen zu Hunderten von Gesundheitsthemen.
Abonnieren Sie den Patienten-Newsletter
Ihre wöchentliche Dosis klarer, vertrauenswürdiger Gesundheitsberatung - geschrieben, um Ihnen zu helfen, sich informiert, selbstbewusst und in Kontrolle zu fühlen.
Durch das Abonnieren akzeptieren Sie unsere Datenschutzrichtlinie. Sie können sich jederzeit abmelden. Wir verkaufen Ihre Daten niemals.