calcium voltage-gated channel subunit alpha1 F
Ultimo aggiornamento 21 giu 2024
Rispetta le linee guida editoriali
- ScaricaScarica
- Condividi
- Language
- Discussione
- Versione audio
- Aggiungi alle fonti preferite su Google
The CACNA1F gene belongs to a family of genes that provide instructions for making calcium channels. These channels, which transport positively charged calcium atoms (calcium ions) across cell membranes, play a key role in a cell's ability to generate and transmit electrical signals.
Normal function
The CACNA1F gene belongs to a family of genes that provide instructions for making calcium channels. These channels, which transport positively charged calcium atoms (calcium ions) across cell membranes, play a key role in a cell's ability to generate and transmit electrical signals.
The CACNA1F gene provides instructions for making one part (the alpha-1 subunit) of a calcium channel called CaV1.4. This subunit forms the hole (pore) in the cell membrane through which calcium ions can flow. CaV1.4 channels are found in many types of cells, although they play a particularly important role in a specialized tissue at the back of the eye called the retina. Within the retina, the channels are located in light-detecting cells called photoreceptors. The retina contains two types of photoreceptors: rods and cones. Rods are needed for vision in low light. Cones are needed for vision in bright light, including colour vision.
CaV1.4 channels play a critical role in normal vision. Studies suggest they help relay visual signals from rods and cones to other retinal cells called bipolar cells. This signaling is an essential step in the transmission of visual information from the eyes to the brain.
Conditions referring to this gene or chromosome
Altri nomi
CAC1F_HUMAN
Cav1.4
Cav1.4alpha1
Related patient information and medicines
Patient information leaflet
Malattia delle valvole cardiache
The leaflet called Anatomy of the heart includes details about the function of. What is heart valve disease. If rheumatic fever is the cause then symptoms often start between the ages of 20 and 50 years, about 10-20 years after having had an episode of rheumatic fever as a child. Other causes of heart valve disease Other causes of heart valve.
Patient information leaflet
Posso prendere Levotiroxina e Felodipina insieme?
Taking levothy... If your thyroid levels are not well-controlled, it can change how your body processes the blood pressure medication. Why this happens Levotiroxina is a thyroid hormone, and felodipina è a calcium channel blocker used for high blood pressure. Thyroid hormones affect your metabolism. If you are hyperthyroid (too much hormone) or.
Patient information leaflet
Cancro del rene
The cancer grows and forms into a tumour within the kidney. As the tumour grows: The affected kidney tends to become larger. In time the tumour may grow through the wall of the kidney and invade nearby tissues and organs, such as the muscles around the spine, the liver, the nearby large blood vessels, etc. Some cells may break off into the lymph.
Patient information leaflet
Posso prendere Amlodipina e Metformina insieme?
Amlodipine may slightly reduce t... This means your blood sugar levels might be a little higher than usual when taking both medicines together. Why this happens Amlodipine belongs to a class of drugs called calcium channel blockers. These can sometimes interfere with how the body releases insulin and how it processes sugar, which can slightly.
Patient information leaflet
Posso prendere Colecalciferolo e Pregabalin insieme?
It is generally considered safe to take these t... Why this happens Colecalciferol (Vitamin D3) and pregabalin are processed by the body through different pathways. Colecalciferol is a fat-soluble vitamin involved in calcio regulation, while pregabalin works on specific calcium channels in the nervous system per trattare pain or anxiety. They do not.
Patient information leaflet
Posso prendere Lercanidipina e Levotiroxina insieme?
However, if your thyroid levels are not well-controlled, it can affect how your blood pressure medication works. Why this happens Lercanidipine è a calcium channel blocker used for high blood pressure, and levothyroxine is a hormone replacement for an underactive thyroid. They do not interfere with each other's absorption or metabolism. However,.
Ulteriori letture e riferimenti
- calcium voltage-gated channel subunit alpha1 F; MedlinePlus, National Library of Medicine.
- Bech-Hansen NT, Naylor MJ, Maybaum TA, Pearce WG, Koop B, Fishman GA, Mets M, Musarella MA, Boycott KM. Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. Nat Genet. 1998 Jul;19(3):264-7. doi: 10.1038/947.
- Boycott KM, Maybaum TA, Naylor MJ, Weleber RG, Robitaille J, Miyake Y, Bergen AA, Pierpont ME, Pearce WG, Bech-Hansen NT. A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants. Hum Genet. 2001 Feb;108(2):91-7. doi: 10.1007/s004390100461.
- Hoda JC, Zaghetto F, Koschak A, Striessnig J. Congenital stationary night blindness type 2 mutations S229P, G369D, L1068P, and W1440X alter channel gating or functional expression of Ca(v)1.4 L-type Ca2+ channels. J Neurosci. 2005 Jan 5;25(1):252-9. doi: 10.1523/JNEUROSCI.3054-04.2005.
- Hoda JC, Zaghetto F, Singh A, Koschak A, Striessnig J. Effects of congenital stationary night blindness type 2 mutations R508Q and L1364H on Cav1.4 L-type Ca2+ channel function and expression. J Neurochem. 2006 Mar;96(6):1648-58. doi: 10.1111/j.1471-4159.2006.03678.x. Epub 2006 Feb 10.
- Jalkanen R, Bech-Hansen NT, Tobias R, Sankila EM, Mantyjarvi M, Forsius H, de la Chapelle A, Alitalo T. A novel CACNA1F gene mutation causes Aland Island eye disease. Invest Ophthalmol Vis Sci. 2007 Jun;48(6):2498-502. doi: 10.1167/iovs.06-1103.
- Jalkanen R, Mantyjarvi M, Tobias R, Isosomppi J, Sankila EM, Alitalo T, Bech-Hansen NT. X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene. J Med Genet. 2006 Aug;43(8):699-704. doi: 10.1136/jmg.2006.040741. Epub 2006 Feb 27.
- Koschak A, Fernandez-Quintero ML, Heigl T, Ruzza M, Seitter H, Zanetti L. Cav1.4 dysfunction and congenital stationary night blindness type 2. Pflugers Arch. 2021 Sep;473(9):1437-1454. doi: 10.1007/s00424-021-02570-x. Epub 2021 Jul 1.
- MacDonald IM, Hoang S, Tuupanen S. X-Linked Congenital Stationary Night Blindness. 2008 Jan 16 [updated 2019 Jul 3]. 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/NBK1245/
- McRory JE, Hamid J, Doering CJ, Garcia E, Parker R, Hamming K, Chen L, Hildebrand M, Beedle AM, Feldcamp L, Zamponi GW, Snutch TP. The CACNA1F gene encodes an L-type calcium channel with unique biophysical properties and tissue distribution. J Neurosci. 2004 Feb 18;24(7):1707-18. doi: 10.1523/JNEUROSCI.4846-03.2004.
- Peloquin JB, Rehak R, Doering CJ, McRory JE. Functional analysis of congenital stationary night blindness type-2 CACNA1F mutations F742C, G1007R, and R1049W. Neuroscience. 2007 Dec 5;150(2):335-45. doi: 10.1016/j.neuroscience.2007.09.021. Epub 2007 Sep 14.
- Strom TM, Nyakatura G, Apfelstedt-Sylla E, Hellebrand H, Lorenz B, Weber BH, Wutz K, Gutwillinger N, Ruther K, Drescher B, Sauer C, Zrenner E, Meitinger T, Rosenthal A, Meindl A. An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. Nat Genet. 1998 Jul;19(3):260-3. doi: 10.1038/940.
- Wutz K, Sauer C, Zrenner E, Lorenz B, Alitalo T, Broghammer M, Hergersberg M, de la Chapelle A, Weber BH, Wissinger B, Meindl A, Pusch CM. Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina. Eur J Hum Genet. 2002 Aug;10(8):449-56. doi: 10.1038/sj.ejhg.5200828.
- Wygledowska-Promienska D, Swierczynska M, Spiewak D, Pojda-Wilczek D, Tronina A, Dorecka M, Smedowski A. Aland Island Eye Disease with Retinoschisis in the Clinical Spectrum of CACNA1F-Associated Retinopathy-A Case Report. Int J Mol Sci. 2024 Mar 2;25(5):2928. doi: 10.3390/ijms25052928.
- Zeitz C, Robson AG, Audo I. Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms. Prog Retin Eye Res. 2015 Mar;45:58-110. doi: 10.1016/j.preteyeres.2014.09.001. Epub 2014 Oct 13.
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.