procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
עודכן לאחרונה 18 Aug 2020
עומד בהנחיות העריכה של Patient
- הורדהורד
- שתף
- Language
- דיון
- גרסת שמע
- הוסף למקורות מועדפים בגוגל
ה PLOD1 gene provides instructions for making an enzyme called lysyl hydroxylase 1. This enzyme modifies an amino acid called lysine, which is one of the building blocks used to make proteins. Specifically, lysyl hydroxylase 1 converts lysine to a similar molecule, hydroxylysine, through a chemical reaction called hydroxylation. Hydroxylysine is commonly found in collagens, which are complex molecules that provide strength and support to many body tissues.
Normal function
ה PLOD1 gene provides instructions for making an enzyme called lysyl hydroxylase 1. This enzyme modifies an amino acid called lysine, which is one of the building blocks used to make proteins. Specifically, lysyl hydroxylase 1 converts lysine to a similar molecule, hydroxylysine, through a chemical reaction called hydroxylation. Hydroxylysine is commonly found in collagens, which are complex molecules that provide strength and support to many body tissues.
Hydroxylysine is essential for collagen molecules to form stable interactions, called cross-links, with one another in the spaces between cells. The cross-links result in the formation of very strong collagen fibers.
Conditions referring to this gene or chromosome
Other names
collagen lysyl hydroxylase
LH
LH1
LLH
lysine 2-oxoglutarate dioxygenase
lysine hydroxylase
lysyl hydroxylase
PLOD
PLOD1_HUMAN
procollagen-L-lysine,2-oxoglutarate:oxygen oxidoreductase (5-hydroxylating)
procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1
procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
protocollagen lysyl hydroxylase
Related patient information and medicines
Patient information leaflet
נסיעה למקומות מרוחקים
Remember, even if a doctor is attending your trip, they may not be equipped with a large supply of medication. Before travelling, consult the Foreign and Commonwealth Office (FCO) website (see under 'Further Reading and References' below) for advice on travelling to your destination. In addition to political problems, there may be hostility.
Patient information leaflet
קדחת בלוטות
קדחת בלוטות (also known as infectious mononucleosis) is a viral זיהום that most often affects teenagers and young adults. Although it can make some people feel quite ill, full recovery is usual. What is glandular fever. Glandular fever is a viral infection, mostly caused by the Epstein-Barr virus. The virus can be passed from person to.
Patient information leaflet
מחלת קוואסקי
Kawasaki disease is a rare condition that affects small to medium-sized blood vessels in the body. Kawasaki disease causes the the walls of the blood vessels to become inflamed and swollen (vasculitis). Kawasaki disease mainly affects children less than 5 years old. The exact cause of Kawasaki disease remains unknown. Kawasaki disease causes a.
Patient information leaflet
טיפול בסוכרת סוג 2
Although סוכרת לא יכול be cured, it can be treated successfully. If a high blood sugar level is brought down to a normal level, your symptoms will ease and your risk of long-term complications will be much lower. Managing type 2 diabetes Keeping your blood sugar (glucose) well controlled is key to reducing your risk of long-term complications.
Patient information leaflet
מחלת כליות פוליציסטית
Polycystic kidney disease (PKD) causes many fluid-filled sacs (cysts) to develop in the kidneys. With ADPKD, problems commonly do not develop until the age of 30-50, with some people never developing any problems. A cyst is a fluid-filled sac. Cysts occur in various sizes, in various conditions and in various parts of the body. The cysts are.
Patient information leaflet
ספונדילוארתריטיס אקסיאלית
ספונדילוארתריטיס אקסיאלית (also known as axSpA או axial SpA) is a painful, chronic arthritis that mainly affects the joints of the spine, and also the joints connecting each side of the base of the spine with the pelvis (sacroiliac joints). It can also affect other joints in the body, as well as tendons and ligaments. It is divided into: 1).
קריאה נוספת והפניות
- procollagen-lysine,2-oxoglutarate 5-dioxygenase 1; MedlinePlus, National Library of Medicine.
- Brady AF, Demirdas S, Fournel-Gigleux S, Ghali N, Giunta C, Kapferer-Seebacher I, Kosho T, Mendoza-Londono R, Pope MF, Rohrbach M, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Zschocke J, Malfait F. The Ehlers-Danlos syndromes, rare types. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):70-115. doi: 10.1002/ajmg.c.31550.
- Eyre D, Shao P, Weis MA, Steinmann B. The kyphoscoliotic type of Ehlers-Danlos syndrome (type VI): differential effects on the hydroxylation of lysine in collagens I and II revealed by analysis of cross-linked telopeptides from urine. Mol Genet Metab. 2002 Jul;76(3):211-6. doi: 10.1016/s1096-7192(02)00036-7.
- Giunta C, Burer-Chambaz C, Steinmann B. Novel human pathological mutations. Gene symbol: PLOD1. Disease: Ehlers-Danlos syndrome type VIA, kyphoscoliotic type. Hum Genet. 2009 Apr;125(3):346. No abstract available.
- Giunta C, Randolph A, Steinmann B. Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA). Mol Genet Metab. 2005 Sep-Oct;86(1-2):269-76. doi: 10.1016/j.ymgme.2005.04.014. Epub 2005 Jun 24.
- Heikkinen J, Toppinen T, Yeowell H, Krieg T, Steinmann B, Kivirikko KI, Myllyla R. Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers-Danlos syndrome. Am J Hum Genet. 1997 Jan;60(1):48-56.
- Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26. doi: 10.1002/ajmg.c.31552.
- Rohrbach M, Vandersteen A, Yis U, Serdaroglu G, Ataman E, Chopra M, Garcia S, Jones K, Kariminejad A, Kraenzlin M, Marcelis C, Baumgartner M, Giunta C. Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation. Orphanet J Rare Dis. 2011 Jun 23;6:46. doi: 10.1186/1750-1172-6-46.
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.