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Li, V. FKBP14 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5532 (accessed on 21 September 2026).
Li V. FKBP14 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5532. Accessed September 21, 2026.
Li, Vivi. "FKBP14 Gene" Encyclopedia, https://encyclopedia.pub/entry/5532 (accessed September 21, 2026).
Li, V. (2020, December 25). FKBP14 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5532
Li, Vivi. "FKBP14 Gene." Encyclopedia. Web. 25 December, 2020.
FKBP14 Gene
Edit

FKBP prolyl isomerase 14: The FKBP14 gene provides instructions for making a protein called FKBP prolyl isomerase 14 (also known as FKBP22). 

genes

References

  1. Aldeeri AA, Alazami AM, Hijazi H, Alzahrani F, Alkuraya FS. Excessivelyredundant umbilical skin as a potential early clinical feature of Morquiosyndrome and FKBP14-related Ehlers-Danlos syndrome. Clin Genet. 2014Nov;86(5):469-72. doi: 10.1111/cge.12414.
  2. Baumann M, Giunta C, Krabichler B, Rüschendorf F, Zoppi N, Colombi M, Bittner RE, Quijano-Roy S, Muntoni F, Cirak S, Schreiber G, Zou Y, Hu Y, Romero NB,Carlier RY, Amberger A, Deutschmann A, Straub V, Rohrbach M, Steinmann B, RostásyK, Karall D, Bönnemann CG, Zschocke J, Fauth C. Mutations in FKBP14 cause avariant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. Am J Hum Genet. 2012 Feb 10;90(2):201-16. doi:10.1016/j.ajhg.2011.12.004.
  3. Brady AF, Demirdas S, Fournel-Gigleux S, Ghali N, Giunta C, Kapferer-SeebacherI, 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. Review.
  4. Dordoni C, Ciaccio C, Venturini M, Calzavara-Pinton P, Ritelli M, Colombi M.Further delineation of FKBP14-related Ehlers-Danlos syndrome: A patient withearly vascular complications and non-progressive kyphoscoliosis, and literaturereview. Am J Med Genet A. 2016 Aug;170(8):2031-8. doi: 10.1002/ajmg.a.37728.
  5. Ishikawa Y, Bächinger HP. A substrate preference for the rough endoplasmicreticulum resident protein FKBP22 during collagen biosynthesis. J Biol Chem. 2014Jun 27;289(26):18189-201. doi: 10.1074/jbc.M114.561944.
  6. 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, DeBacker 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 2017international classification of the Ehlers-Danlos syndromes. Am J Med Genet CSemin Med Genet. 2017 Mar;175(1):8-26. doi: 10.1002/ajmg.c.31552.
  7. Murray ML, Yang M, Fauth C, Byers PH. FKBP14-related Ehlers-Danlos syndrome:expansion of the phenotype to include vascular complications. Am J Med Genet A.2014 Jul;164A(7):1750-5. doi: 10.1002/ajmg.a.36492.
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Update Date: 25 Dec 2020
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