bone morphogenetic protein receptor type 1A
עודכן לאחרונה 18 Aug 2020
עומד בהנחיות העריכה של Patient
- הורדהורד
- שתף
- Language
- דיון
- גרסת שמע
- הוסף למקורות מועדפים בגוגל
ה BMPR1A gene provides instructions for making a protein called bone morphogenetic protein receptor 1A. This receptor protein has a specific site into which certain other proteins, called ligands, fit like keys into locks. Specifically, the BMPR1A protein attaches (binds) to ligands in the transforming growth factor beta (TGF-β) pathway. This signaling pathway allows the environment outside the cell to affect how the cell produces other proteins. The BMPR1A receptor protein and its ligands are involved in transmitting chemical signals from the cell membrane to the nucleus.
Normal function
ה BMPR1A gene provides instructions for making a protein called bone morphogenetic protein receptor 1A. This receptor protein has a specific site into which certain other proteins, called ligands, fit like keys into locks. Specifically, the BMPR1A protein attaches (binds) to ligands in the transforming growth factor beta (TGF-β) pathway. This signaling pathway allows the environment outside the cell to affect how the cell produces other proteins. The BMPR1A receptor protein and its ligands are involved in transmitting chemical signals from the cell membrane to the nucleus.
When the BMPR1A protein is bound to a ligand, it turns on (activates) a group of related proteins (a protein complex) called SMAD proteins. The activated SMAD protein complex is then transported into the cell's nucleus, where it regulates cell growth and division (proliferation) and the activity of particular genes.
Conditions referring to this gene or chromosome
Other names
activin A receptor, type II-like kinase 3
ACVRLK3
ALK3
BMR1A_HUMAN
bone morphogenetic protein receptor type IA
bone morphogenetic protein receptor, type IA
bone morphogenetic protein receptor, type IA precursor
CD292
serine/threonine-protein kinase receptor R5
SKR5
Related patient information and medicines
Patient information leaflet
סרטן השד
Types of breast cancer Carcinoma in situ Some people are diagnosed when the cancerous cells are still totally within a duct or lobule. These are called carcinoma in situ (or non-invasive breast cancer), as no cancer cells have grown out from their original site. Ductal carcinoma in situ (DCIS) is the most common type of non-invasive breast cancer.
Patient information leaflet
תסמונת נפרוטית
Nephrotic syndrome is a condition where the 'filters' in the kidney become 'leaky' and large amounts of חלבון leak from the blood into the urine. The main symptom is fluid retention (oedema) which is mainly due to the low protein level in the blood. Various diseases can cause nephrotic syndrome, some more serious than others. What is nephrotic.
Patient information leaflet
סרטן הגרון
סרטן הגרון is a general term. It is sometimes called laryngeal cancer (cancer of the larynx). However, the throat includes other nearby structures as well as the voice box (larynx). Laryngeal cancer is just one type of cancer that can occur in the throat. Throat cancers and cancers that affect the mouth, are together all called oropharyngeal.
Patient information leaflet
סוגי דם וקבוצות
ABO ו rhesus are both types of antigens found on the surface of red blood cells. There are lots of other types but these are the most important. The main reasons to know your blood group are if you need to have a blood transfusion or if you are pregnant. What is a blood group. Red blood cells (erythrocytes) have certain proteins on their.
Patient information leaflet
סרטן הפה
Although סרטן הפה is uncommon in the UK, it seems to be getting much more common: the number of cases doubled in the 20 years from 1994 to 2014. There are around 7,500 cases diagnosed each year in the UK. It is twice as common in men as it is in women. It is rare in people aged under 40 but it is becoming more common. Many cases are diagnosed.
Patient information leaflet
מיפוי עצמות
ה bone scan is a special type of nuclear medicine procedure that uses radionuclides to create a picture of the bones. Radionuclides are chemicals which emit radioactivity that can be detected by special scanners. A bone scan is different to a bone density scan (DEXA). See the DEXA Scan leaflet for more information on this bone density test. A DEXA.
קריאה נוספת והפניות
- bone morphogenetic protein receptor type 1A; MedlinePlus, National Library of Medicine.
- Aretz S, Stienen D, Uhlhaas S, Stolte M, Entius MM, Loff S, Back W, Kaufmann A, Keller KM, Blaas SH, Siebert R, Vogt S, Spranger S, Holinski-Feder E, Sunde L, Propping P, Friedl W. High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. J Med Genet. 2007 Nov;44(11):702-9. doi: 10.1136/jmg.2007.052506. Epub 2007 Sep 14.
- Calva-Cerqueira D, Chinnathambi S, Pechman B, Bair J, Larsen-Haidle J, Howe JR. The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis. Clin Genet. 2009 Jan;75(1):79-85. doi: 10.1111/j.1399-0004.2008.01091.x. Epub 2008 Sep 24.
- Howe JR, Bair JL, Sayed MG, Anderson ME, Mitros FA, Petersen GM, Velculescu VE, Traverso G, Vogelstein B. Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. Nat Genet. 2001 Jun;28(2):184-7. doi: 10.1038/88919.
- Howe JR, Sayed MG, Ahmed AF, Ringold J, Larsen-Haidle J, Merg A, Mitros FA, Vaccaro CA, Petersen GM, Giardiello FM, Tinley ST, Aaltonen LA, Lynch HT. The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. J Med Genet. 2004 Jul;41(7):484-91. doi: 10.1136/jmg.2004.018598.
- Pyatt RE, Pilarski R, Prior TW. Mutation screening in juvenile polyposis syndrome. J Mol Diagn. 2006 Feb;8(1):84-8. doi: 10.2353/jmoldx.2006.050072.
הצטרפו לשיחה
שתפו את מחשבותיכם או חוויותיכם עם אחרים ב קהילות המטופלים שלנו.
שאלו, שתפו, התחברו.
עיין בדיונים, שאל שאלות ושתף חוויות במאות נושאים בריאותיים.
הירשמו לניוזלטר של פיישנט
המנה השבועית שלך של עצות בריאות ברורות ואמינות - נכתבה כדי לעזור לך להרגיש מעודכן, בטוח ובשליטה.
על ידי הרשמה אתה מקבל את שלנו מדיניות הפרטיות שלנו. באפשרותך לבטל את המנוי בכל עת. לעולם לא נמכור את הנתונים שלך.