FKBP prolyl isomerase 14
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Den FKBP14 gene provides instructions for making a protein called FKBP prolyl isomerase 14 (also known as FKBP22). This protein is found in a cell structure called the endoplasmic reticulum (ER), which is involved in protein processing and transport. Among its many functions, the endoplasmic reticulum folds and modifies newly formed proteins so they have the 3-dimensional shape they need to function properly. FKBP prolyl isomerase 14 is thought to assist with protein folding, particularly the folding of procollagens. Procollagens are the precursors of collagens, which are complex molecules found in the spaces between cells (the extracellular matrix) that add strength, support, and stretchiness (elasticity) to organs and tissues throughout the body. Studies suggest that FKBP prolyl isomerase 14 may also play a role in processing other components of the extracellular matrix.
Normal function
Den FKBP14 gene provides instructions for making a protein called FKBP prolyl isomerase 14 (also known as FKBP22). This protein is found in a cell structure called the endoplasmic reticulum (ER), which is involved in protein processing and transport. Among its many functions, the endoplasmic reticulum folds and modifies newly formed proteins so they have the 3-dimensional shape they need to function properly. FKBP prolyl isomerase 14 is thought to assist with protein folding, particularly the folding of procollagens. Procollagens are the precursors of collagens, which are complex molecules found in the spaces between cells (the extracellular matrix) that add strength, support, and stretchiness (elasticity) to organs and tissues throughout the body. Studies suggest that FKBP prolyl isomerase 14 may also play a role in processing other components of the extracellular matrix.
Conditions referring to this gene or chromosome
Other names
22 kDa FK506-binding protein
22 kDa FKBP
EDSKMH
FK506 binding protein 14
FK506 binding protein 14, 22 kDa
FKBP-22
FKBP22
FLJ20731
IPBP12
peptidyl-prolyl cis-trans isomerase FKBP14 precursor
PPIase FKBP14
rotamase
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Vidare läsning och referenser
- FKBP prolyl isomerase 14; MedlinePlus, National Library of Medicine.
- Aldeeri AA, Alazami AM, Hijazi H, Alzahrani F, Alkuraya FS. Excessively redundant umbilical skin as a potential early clinical feature of Morquio syndrome and FKBP14-related Ehlers-Danlos syndrome. Clin Genet. 2014 Nov;86(5):469-72. doi: 10.1111/cge.12414. Epub 2014 May 22.
- Baumann M, Giunta C, Krabichler B, Ruschendorf 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, Rostasy K, Karall D, Bonnemann CG, Zschocke J, Fauth C. Mutations in FKBP14 cause a variant 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. Epub 2012 Jan 19.
- 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.
- Dordoni C, Ciaccio C, Venturini M, Calzavara-Pinton P, Ritelli M, Colombi M. Further delineation of FKBP14-related Ehlers-Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature review. Am J Med Genet A. 2016 Aug;170(8):2031-8. doi: 10.1002/ajmg.a.37728. Epub 2016 May 5.
- Ishikawa Y, Bachinger HP. A substrate preference for the rough endoplasmic reticulum resident protein FKBP22 during collagen biosynthesis. J Biol Chem. 2014 Jun 27;289(26):18189-201. doi: 10.1074/jbc.M114.561944. Epub 2014 May 12.
- 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.
- 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. Epub 2014 Mar 26.
Artikelhistorik
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18 aug 2020 | Senaste versionen
1 Nov 2017 | Ursprungligen publicerad
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