bridging integrator 1
Ultimo aggiornamento 18 Ago 2020
Rispetta le linee guida editoriali
- ScaricaScarica
- Condividi
- Language
- Discussione
- Versione audio
- Aggiungi alle fonti preferite su Google
L BIN1 gene provides instructions for making a protein that is found in tissues throughout the body, where it interacts with a variety of other proteins. The BIN1 protein is thought to be involved in the transportation of materials from the cell surface into the cell (endocytosis) and the self-destruction of cells (apoptosis). The BIN1 protein may act as a tumour suppressor protein, which means it prevents cells from growing and dividing too rapidly or in an uncontrolled way.
Normal function
L BIN1 gene provides instructions for making a protein that is found in tissues throughout the body, where it interacts with a variety of other proteins. The BIN1 protein is thought to be involved in the transportation of materials from the cell surface into the cell (endocytosis) and the self-destruction of cells (apoptosis). The BIN1 protein may act as a tumour suppressor protein, which means it prevents cells from growing and dividing too rapidly or in an uncontrolled way.
Several different versions (isoforms) of the BIN1 protein are produced from the BIN1 gene. These isoforms vary by size and are active in different tissues. The BIN1 protein isoform that is expressed in muscle cells is thought to be involved in the formation of structures called transverse tubules or T tubules. These structures are found within the membrane of muscle cells, where they play a role in muscle tensing (contraction) and relaxation.
Conditions referring to this gene or chromosome
Altri nomi
AMPH2
amphiphysin II
amphiphysin-like protein
AMPHL
BIN1_HUMAN
box-dependent myc-interacting protein 1
myc box-dependent-interacting protein 1
SH3P9
Related patient information and medicines
Patient information leaflet
Impianti dentali
A dental implant is a modern way of replacing missing teeth. It takes the form of a titanium post that fixes into your jawbone and is topped by an artificial tooth. The crown of your dental implant will be almost indistinguishable from the rest of your teeth, and will work like a normal tooth - making implants a very attractive, long-term.
Patient information leaflet
Posso assumere Glucomannano e Nexplanon insieme?
Glucomannan is a type of fibre that can slow down or reduce how much of your contraceptive medication is absorbed into your bloodstream. This could potentially make the Nexplanon implant less effective at preventing pregnancy. Using other medicines Taking multiple m... Our Medicines Interaction Checker helps you check whether your prescriptions,.
Patient information leaflet
Tratto falciforme
Se tu inherit a gene from one of your parents, called a sickle cell gene, you have a condition called sickle cell trait. If you inherit a sickle cell gene from both parents, you get a double dose of the sickle cell gene. This causes a condition called sickle cell disease (SCD). What is sickle cell trait. Sickle cell trait means having one gene.
Patient information leaflet
Chirurgia di riduzione del naso (rinoplastica)
This leaflet is provided by the British Association of Aesthetic Plastic Surgeons , the professional body responsible for the advancement of education and safety in aesthetic plastic surgery. Surgery to reshape the nose is a very common plastic surgery procedure and it can both increase or decrease the size of nose. The shape of the tip, the.
Patient information leaflet
Insufficienza epatica
Releasing bile, which passes into the gut (bowel) to help break d... How common is liver failure. Acute liver failure is very uncommon: In England , there were 688 liver transplants, 28 in Scotland, 69 in Wales and 24 in Northern Ireland performed in the year April 2021 to April 2022. The number of transplants increased by 11% from the previous.
Patient information leaflet
Spondilite anchilosante
Ankylosing spondylitis is a chronic inflammatory arthritis. It mainly affects the lower back but can affect the rest of the spine. There is no cure but treatments help with managing symptoms. What is ankylosing spondylitis. Ankylosing spondylitis (AS) is a persistent (chronic) inflammatory arthritic disease. The word ankylosing means joining.
Ulteriori letture e riferimenti
- bridging integrator 1; MedlinePlus, National Library of Medicine.
- Bohm J, Biancalana V, Malfatti E, Dondaine N, Koch C, Vasli N, Kress W, Strittmatter M, Taratuto AL, Gonorazky H, Laforet P, Maisonobe T, Olive M, Gonzalez-Mera L, Fardeau M, Carriere N, Clavelou P, Eymard B, Bitoun M, Rendu J, Faure J, Weis J, Mandel JL, Romero NB, Laporte J. Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations. Brain. 2014 Dec;137(Pt 12):3160-70. doi: 10.1093/brain/awu272. Epub 2014 Sep 25.
- Jungbluth H, Gautel M. Pathogenic mechanisms in centronuclear myopathies. Front Aging Neurosci. 2014 Dec 19;6:339. doi: 10.3389/fnagi.2014.00339. eCollection 2014.
- Jungbluth H, Wallgren-Pettersson C, Laporte J. Centronuclear (myotubular) myopathy. Orphanet J Rare Dis. 2008 Sep 25;3:26. doi: 10.1186/1750-1172-3-26.
- Nicot AS, Toussaint A, Tosch V, Kretz C, Wallgren-Pettersson C, Iwarsson E, Kingston H, Garnier JM, Biancalana V, Oldfors A, Mandel JL, Laporte J. Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. Nat Genet. 2007 Sep;39(9):1134-9. doi: 10.1038/ng2086. Epub 2007 Aug 5.
- Romero NB. Centronuclear myopathies: a widening concept. Neuromuscul Disord. 2010 Apr;20(4):223-8. doi: 10.1016/j.nmd.2010.01.014. Epub 2010 Feb 23.
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.