TNF receptor superfamily member 11a
Última actualización 20 Nov 2025
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El 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
El 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
Otros nombres
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
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Lecturas adicionales y referencias
- 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.
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