G protein subunit alpha transducin 2
Ultimo aggiornamento 11 Ago 2025
Rispetta le linee guida editoriali
- ScaricaScarica
- Condividi
- Language
- Discussione
- Versione audio
- Aggiungi alle fonti preferite su Google
L GNAT2 gene provides instructions for making one part (called the cone-specific alpha subunit) of a protein called transducin. This protein is found 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
L GNAT2 gene provides instructions for making one part (called the cone-specific alpha subunit) of a protein called transducin. This protein is found 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).
Transducin plays an essential role in transmitting visual signals from photoreceptor cells in the retina to the brain through a process called phototransduction. Photoreceptors contain special pigments (called photopigments) that absorb light. The photopigments activate transducin, which triggers a series of chemical reactions within the cell. These reactions alter the cell's electrical charge, ultimately generating a signal that is interpreted by the brain as vision.
Conditions referring to this gene or chromosome
Altri nomi
ACHM4
cone-type transducin alpha subunit
GNAT2_HUMAN
GNATC
guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
guanine nucleotide binding protein, alpha transducing activity polypeptide 2
transducin alpha-2 chain
transducin, cone-specific, alpha polypeptide
Related patient information and medicines
Patient information leaflet
Test di funzionalità epatica
What are the main liver function tests. The usual liver function tests typically include the following: Bilirubin. Albumin. Total protein. Transferases (AST or SGOT and ALT or SGPT). Gamma GT. Creatine kinase. Immunoglobulins (antibo. Serum ferritin and transferrin saturation (measures of iron storage and management by your body)..
Patient information leaflet
Cancro primario al fegato
Screening Screening has been r... This happens using ultrasound scans. Sometimes a blood test for alpha-fetoprotein (AFP) is also taken at 6- to 12-monthly intervals although this is not a very accurate test and is not routinely recommended. These tests can detect liver cancer at an earlier stage and therefore improve the chance of successful.
Patient information leaflet
Alimentazione sana
Che cos'è are the benefits of healthy eating. Sano eating may help to prevent certain serious diseases such as heart disease , ictus and type 2 diabetes. For this reason, the UK Government's Scientific Advisory Committee on Nutrition (SACN) recommend that your intake of red and processed carne should be no more than 70 g/day. A 2019 review by the.
Patient information leaflet
Posso prendere Guanfacine e Tizanidina insieme?
You may feel faint, lightheaded, or even pass out, especially when standing up quickly. It can also significantly slow your heart rate. Why this happens Both guanfacine e tizanidina sono 'alpha-2 agonists'. This means they work in a similar way to relax blood vessels and slow down the nervous system. When used together, their effects add up,.
Patient information leaflet
Prostata ingrossata
The prostate gland commonly becomes larger in older men. Women do not have a prostate gland. This prostate gland enlargement is also called benign prostatic hypertrophy (or hyperplasia). It can cause problems with passing urine. Symptoms are often mild. Without treatment, symptoms do not always become worse and may even improve over time. If.
Patient information leaflet
Dieta Dukan
The Dukan diet consists of four phases designed to aid fast weight loss and ultimately, weight maintenance. The Dukan diet's first two phases are based on a list of 72 to 100 permitted foods to promote rapid, consistent weight loss. The final two phases involve re-introduction of foods with an aim to help dieters keep the weight off permanently..
Ulteriori letture e riferimenti
- G protein subunit alpha transducin 2; MedlinePlus, National Library of Medicine.
- Aligianis IA, Forshew T, Johnson S, Michaelides M, Johnson CA, Trembath RC, Hunt DM, Moore AT, Maher ER. Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2). J Med Genet. 2002 Sep;39(9):656-60. doi: 10.1136/jmg.39.9.656.
- Kohl S, Baumann B, Rosenberg T, Kellner U, Lorenz B, Vadala M, Jacobson SG, Wissinger B. Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. Am J Hum Genet. 2002 Aug;71(2):422-5. doi: 10.1086/341835. Epub 2002 Jun 20.
- 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/
- Michaelides M, Aligianis IA, Holder GE, Simunovic M, Mollon JD, Maher ER, Hunt DM, Moore AT. Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the alpha-subunit of cone specific transducin (GNAT2). Br J Ophthalmol. 2003 Nov;87(11):1317-20. doi: 10.1136/bjo.87.11.1317.
- Ouechtati F, Merdassi A, Bouyacoub Y, Largueche L, Derouiche K, Ouragini H, Nouira S, Tiab L, Baklouti K, Rebai A, Schorderet DF, Munier FL, Zografos L, Abdelhak S, El Matri L. Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene. J Hum Genet. 2011 Jan;56(1):22-8. doi: 10.1038/jhg.2010.128. Epub 2010 Nov 25.
- Pina AL, Baumert U, Loyer M, Koenekoop RK. A three base pair deletion encoding the amino acid (lysine-270) in the alpha-cone transducin gene. Mol Vis. 2004 Apr 8;10:265-71.
- Rosenberg T, Baumann B, Kohl S, Zrenner E, Jorgensen AL, Wissinger B. Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations. Invest Ophthalmol Vis Sci. 2004 Dec;45(12):4256-62. doi: 10.1167/iovs.04-0317.
Partecipa alla conversazione
Condividi i tuoi pensieri o esperienze con gli altri nel nostro comunità di pazienti.
Chiedi, condividi, connettiti.
Esplora le discussioni, fai domande e condividi esperienze su centinaia di argomenti di salute.
Iscriviti alla newsletter di Patient
La tua dose settimanale di consigli sulla salute chiari e affidabili - scritti per aiutarti a sentirti informato, sicuro e in controllo.
Abbonandoti accetti i nostri Informativa sulla Privacy. Puoi annullare l'iscrizione in qualsiasi momento. Non vendiamo mai i tuoi dati.