calcium voltage-gated channel subunit alpha1 F
Senast uppdaterad 21 jun 2024
Uppfyller patientens redaktionella riktlinjer
- Ladda nerLadda ner
- Dela
- Language
- Diskussion
- Ljudversion
- Lägg till i föredragna källor på 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
Other names
CAC1F_HUMAN
Cav1.4
Cav1.4alpha1
Related patient information and medicines
Patient information leaflet
Hjärtklaffsjukdom
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
Kan jag ta Levotyroxin och Felodipin tillsammans?
Taking levothy... If your thyroid levels are not well-controlled, it can change how your body processes the blood pressure medication. Why this happens Levotyroxin is a thyroid hormone, and felodipine is 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
Njurcancer
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
Kan jag ta Amlodipin och Metformin tillsammans?
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 Amlodipin 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
Kan jag ta Kolekalciferol och Pregabalin tillsammans?
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 kalcium regulation, while pregabalin works on specific calcium channels in the nervous system till treat pain or anxiety. They do not.
Patient information leaflet
Kan jag ta Lercanidipin och Levotyroxin tillsammans?
However, if your thyroid levels are not well-controlled, it can affect how your blood pressure medication works. Why this happens Lercanidipine is 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,.
Vidare läsning och referenser
- 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.
Artikelhistorik
Artikeln finns också på Engelska, Tyska, Spanska, Franska, Italienska, Portugisiska, Hindi, Hebreiska, Arabiska, och Svenska.
21 jun 2024 | Senaste versionen
1 Jun 2024 | Ursprungligen publicerad
Delta i konversationen
Dela dina tankar eller erfarenheter med andra i vår patientgemenskaper.
Fråga, dela, anslut.
Bläddra i diskussioner, ställ frågor och dela erfarenheter inom hundratals hälsorelaterade ämnen.
Anmäl dig till Patientens nyhetsbrev
Din veckovisa dos av tydliga, pålitliga hälsoråd - skrivna för att hjälpa dig känna dig informerad, självsäker och i kontroll.
Genom att prenumerera accepterar du våra Sekretesspolicy. Du kan avsluta prenumerationen när som helst. Vi säljer aldrig dina uppgifter.