TNF receptor superfamily member 11a
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Den TNFRSF11A gene provides instructions for making a protein called receptor activator of NF-κB (RANK). This protein plays an important role in bone remodeling, a normal process in which old bone is broken down and new bone is created to replace it. During bone remodeling, RANK helps direct the formation and function of specialized cells called osteoclasts, which break down bone tissue. RANK is located on the surface of immature osteoclasts, where it receives signals that trigger these cells to mature and become fully functional.
Normal function
Den TNFRSF11A gene provides instructions for making a protein called receptor activator of NF-κB (RANK). This protein plays an important role in bone remodeling, a normal process in which old bone is broken down and new bone is created to replace it. During bone remodeling, RANK helps direct the formation and function of specialized cells called osteoclasts, which break down bone tissue. RANK is located on the surface of immature osteoclasts, where it receives signals that trigger these cells to mature and become fully functional.
Conditions referring to this gene or chromosome
Other names
CD265
FEO
ODFR
OFE
OPTB7
osteoclast differentiation factor receptor
OSTS
PDB2
RANK
receptor activator of NF-kappa-B
receptor activator of nuclear factor-kappa B
TNR11_HUMAN
TRANCER
tumour necrosis factor receptor superfamily member 11a
tumour necrosis factor receptor superfamily member 11a, NFKB activator
tumour necrosis factor receptor superfamily, member 11a
tumour necrosis factor receptor superfamily, member 11a, activator of NFKB
tumour necrosis factor receptor superfamily, member 11a, NFKB activator
Related patient information and medicines
Patient information leaflet
Immunosuppression
Mycophenolate mofetil. Monoclonal antibodies - of which there are many ending in "mab", such as bevacizumab, rituximab and trastuzumab. Anti-TNF drugs such as etanercept , infliximab, adalimumab, certolizumab and golimumab. (TNF stands for anti tumour necrosis factor, and some of the "mab" medicines above act against TNF, so there is some overlap.
Patient information leaflet
Biologiska läkemedel för reumatoid artrit
Biological medicines mimic substances produced by the human body, such as antibodies. For example, some of these biological medicines block a chemical called tumour necrosis factor alpha (TNF-alpha) which plays an important role in causing inflammation in the joints. Medicines that block TNF include adalimumab, certolizumab pegol, etanercept,.
Patient information leaflet
Hidradenitis suppurativa
Hidradenitis suppurativa is a long-term (chronic) hud condition that leads to painful and repeated lumps of pus (boils... Hidradenitis suppurativa tends to run in families; about one-third of people with hidradenitis suppurative have a family member who is affected. The most promising of these treatments are monoclonal antibodies, including.
Patient information leaflet
Axial spondylartrit
Axial spondylartrit (also known as axSpA or 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... The main ones used for axial spondyloarthritis are called tumour necrosis factor (TNF) inhibitors (adalimumab, certolizumab pegol, etanercept, golimumab or.
Patient information leaflet
Ankyloserande spondylit
Ankyloserande spondylit is an auto-immune disease. In ankylosing spondylitis, a chemical called cytokine tumour necrosis factor alpha (TNF-alpha) is involved in causing inflammation. It is not known if any of the TNF-alpha inhibitors are more effective or sa... In the UK the National Institute for Health and Care Excellence (NICE) recommends that.
Patient information leaflet
BRCA-gener
There are a few known gene changes (mutations) that can increase the risk of certain cancers, and tests available for some of them, including BRCA1 och BRCA2 gene mutations. The BRCA1 and BRCA2 genes normally protect against certain cancers, particularly breast cancer and ovarian cancer. If there is a mutation in one of these genes then this may.
Vidare läsning och referenser
- TNF receptor superfamily member 11a; MedlinePlus, National Library of Medicine.
- Elahi E, Shafaghati Y, Asadi S, Absalan F, Goodarzi H, Gharaii N, Karimi-Nejad MH, Shahram F, Hughes AE. Intragenic SNP haplotypes associated with 84dup18 mutation in TNFRSF11A in four FEO pedigrees suggest three independent origins for this mutation. J Bone Miner Metab. 2007;25(3):159-64. doi: 10.1007/s00774-007-0748-x. Epub 2007 Apr 20.
- Guerrini MM, Sobacchi C, Cassani B, Abinun M, Kilic SS, Pangrazio A, Moratto D, Mazzolari E, Clayton-Smith J, Orchard P, Coxon FP, Helfrich MH, Crockett JC, Mellis D, Vellodi A, Tezcan I, Notarangelo LD, Rogers MJ, Vezzoni P, Villa A, Frattini A. Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. Am J Hum Genet. 2008 Jul;83(1):64-76. doi: 10.1016/j.ajhg.2008.06.015.
- Hughes AE, Ralston SH, Marken J, Bell C, MacPherson H, Wallace RG, van Hul W, Whyte MP, Nakatsuka K, Hovy L, Anderson DM. Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis. Nat Genet. 2000 Jan;24(1):45-8. doi: 10.1038/71667.
- Johnson-Pais TL, Singer FR, Bone HG, McMurray CT, Hansen MF, Leach RJ. Identification of a novel tandem duplication in exon 1 of the TNFRSF11A gene in two unrelated patients with familial expansile osteolysis. J Bone Miner Res. 2003 Feb;18(2):376-80. doi: 10.1359/jbmr.2003.18.2.376.
- Ke YH, Yue H, He JW, Liu YJ, Zhang ZL. Early onset Paget's disease of bone caused by a novel mutation (78dup27) of the TNFRSF11A gene in a Chinese family. Acta Pharmacol Sin. 2009 Aug;30(8):1204-10. doi: 10.1038/aps.2009.90. Epub 2009 Jul 6.
- Li J, Sarosi I, Yan XQ, Morony S, Capparelli C, Tan HL, McCabe S, Elliott R, Scully S, Van G, Kaufman S, Juan SC, Sun Y, Tarpley J, Martin L, Christensen K, McCabe J, Kostenuik P, Hsu H, Fletcher F, Dunstan CR, Lacey DL, Boyle WJ. RANK is the intrinsic hematopoietic cell surface receptor that controls osteoclastogenesis and regulation of bone mass and calcium metabolism. Proc Natl Acad Sci U S A. 2000 Feb 15;97(4):1566-71. doi: 10.1073/pnas.97.4.1566.
- Nakatsuka K, Nishizawa Y, Ralston SH. Phenotypic characterization of early onset Paget's disease of bone caused by a 27-bp duplication in the TNFRSF11A gene. J Bone Miner Res. 2003 Aug;18(8):1381-5. doi: 10.1359/jbmr.2003.18.8.1381.
- Palenzuela L, Vives-Bauza C, Fernandez-Cadenas I, Meseguer A, Font N, Sarret E, Schwartz S, Andreu AL. Familial expansile osteolysis in a large Spanish kindred resulting from an insertion mutation in the TNFRSF11A gene. J Med Genet. 2002 Oct;39(10):E67. doi: 10.1136/jmg.39.10.e67. No abstract available.
- Whyte MP, Hughes AE. Expansile skeletal hyperphosphatasia is caused by a 15-base pair tandem duplication in TNFRSF11A encoding RANK and is allelic to familial expansile osteolysis. J Bone Miner Res. 2002 Jan;17(1):26-9. doi: 10.1359/jbmr.2002.17.1.26.
Artikelhistorik
Artikeln finns också på Engelska, Tyska, Spanska, Franska, Italienska, Portugisiska, Hindi, Hebreiska, Arabiska, och Svenska.
20 nov 2025 | Senaste versionen
1 Feb 2010 | Ursprungligen publicerad
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