caveolae associated protein 1
Senast uppdaterad 18 aug 2020
Uppfyller patientens redaktionella riktlinjer
- Ladda nerLadda ner
- Dela
- Language
- Diskussion
- Ljudversion
- Lägg till i föredragna källor på Google
Den CAVIN1 gene provides instructions for making a protein called cavin-1. This protein is found in cells and tissues throughout the body. It is most abundant in several types of cells: osteoblasts, which are cells that build bones; muscle cells; and adipocytes, which are cells that store fats for energy. Adipocytes make up most of the body's fatty (adipose) tissue.
Normal function
Den CAVIN1 gene provides instructions for making a protein called cavin-1. This protein is found in cells and tissues throughout the body. It is most abundant in several types of cells: osteoblasts, which are cells that build bones; muscle cells; and adipocytes, which are cells that store fats for energy. Adipocytes make up most of the body's fatty (adipose) tissue.
Studies suggest that cavin-1 plays an essential role in forming and stabilizing caveolae, which are small pouches in the membrane that surrounds cells. Caveolae have multiple functions, some of which are not well understood. They are known to be involved in the transport of molecules from the cell membrane to the interior of the cell (endocytosis), processing of molecules on their way into the cell, maintaining the cell structure, and regulating chemical signaling pathways. Caveolae are particularly numerous in adipocytes, where they appear to be essential for the normal transport, processing, and storage of fats.
Within cells, cavin-1 is also found in the nucleus and in the fluid that surrounds the nucleus (the cytoplasm). In addition to its role in caveolae, studies suggest that this protein is involved in repairing damage to the outer cell membrane, cell growth and division (proliferation), cell movement, stopping cell division in older cells (senescence), and regulating various chemical signaling pathways. The functions of cavin-1 likely differ depending on the type of cell and the part of the cell where the protein is found.
Conditions referring to this gene or chromosome
Other names
CAVIN
cavin-1
CGL4
FKSG13
polymerase I and transcript release factor
PTRF
RNA polymerase I and transcript release factor
TTF-I interacting peptide 12
Related patient information and medicines
Patient information leaflet
Mediterransk kost
The overuse of salt in flavouring Western-style meals and fast foods has been linked with increased blood pressure. The healthy alternative is to replace the excess salt with herbs and also garlic, as Mediterranean people have done for many years. This can also add new flavours to quite simple pasta dishes, rice dishes and stews. The Mediterranean.
Patient information leaflet
Grå starr
However, with cataracts, the affected lens becomes like frosted glass. The lens of the eye sits just behind the pupil, which is the opening in the coloured part of the eye (iris). The lens is held in place by a ring of supporting tissues. Its job is to focus the image of what you see on to the back of your eye. The lens is made of water and.
Patient information leaflet
Hälsosam kost
If you become sick, eating a healthy diet may help you to recover more quickly. Also, a main way of preventing obesity and overweight is to eat a healthy diet. A 2019 review by the SACN (The Scientific Advisory Committee on Nutrition) determined that reducing your intake of saturated fats lowers your risk of developing coronary heart disease,.
Patient information leaflet
Irritabel tarm
IBS stands for irritable bowel syndrome, and it is a long-term chronic condition of the gut (bowel) that causes episodes of tummy (abdominal) cramps, bloating and either constipation or diarrhoea. IBS is a problem with how the bowel works. What is IBS. IBS stands for irritable bowel syndrome and may not cause any harm to your body but sometimes.
Patient information leaflet
Orsaker till minnesförlust och demens
It is thought that the... So, doing things such as reading regularly, quizzes, crosswords, memorising plays or poetry, learning new skills, etc, may help to keep your memory in good shape. Who gets dementia. It is uppskattad that in 2019, there were almost 885,000 people aged 65 years och over living with demens in the UK. By 2040 this number is.
Patient information leaflet
Gastrointestinal malabsorption
Gastrointestinal malabsorption syndrome means a failure to fully absorb digested foods from the gut (bowel) into your body. There are many different causes. Prolonged intestinal malabsorption may cause problems because of a lack of carbohydrates, proteins, fats, minerals and vitamins that are essential to keep you healthy. The treatment will.
Vidare läsning och referenser
- caveolae associated protein 1; MedlinePlus, National Library of Medicine.
- Hayashi YK, Matsuda C, Ogawa M, Goto K, Tominaga K, Mitsuhashi S, Park YE, Nonaka I, Hino-Fukuyo N, Haginoya K, Sugano H, Nishino I. Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. J Clin Invest. 2009 Sep;119(9):2623-33. doi: 10.1172/JCI38660. Epub 2009 Aug 10.
- Hill MM, Bastiani M, Luetterforst R, Kirkham M, Kirkham A, Nixon SJ, Walser P, Abankwa D, Oorschot VM, Martin S, Hancock JF, Parton RG. PTRF-Cavin, a conserved cytoplasmic protein required for caveola formation and function. Cell. 2008 Jan 11;132(1):113-24. doi: 10.1016/j.cell.2007.11.042.
- Liu L, Pilch PF. A critical role of cavin (polymerase I and transcript release factor) in caveolae formation and organization. J Biol Chem. 2008 Feb 15;283(7):4314-22. doi: 10.1074/jbc.M707890200. Epub 2007 Dec 3.
- Low JY, Nicholson HD. Emerging role of polymerase-1 and transcript release factor (PTRF/ Cavin-1) in health and disease. Cell Tissue Res. 2014 Sep;357(3):505-13. doi: 10.1007/s00441-014-1964-z. Epub 2014 Aug 9.
- Rajab A, Straub V, McCann LJ, Seelow D, Varon R, Barresi R, Schulze A, Lucke B, Lutzkendorf S, Karbasiyan M, Bachmann S, Spuler S, Schuelke M. Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations. PLoS Genet. 2010 Mar 12;6(3):e1000874. doi: 10.1371/journal.pgen.1000874.
- Shastry S, Delgado MR, Dirik E, Turkmen M, Agarwal AK, Garg A. Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations. Am J Med Genet A. 2010 Sep;152A(9):2245-53. doi: 10.1002/ajmg.a.33578.
Artikelhistorik
Artikeln finns också på Engelska, Tyska, Spanska, Franska, Italienska, Portugisiska, Hindi, Hebreiska, Arabiska, och Svenska.
18 aug 2020 | Senaste versionen
1 Dec 2015 | 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.