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Normal Function
The 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.
Health Conditions Related to Genetic Changes
Ehlers-Danlos syndrome
Mutations in the FKBP14 gene are one cause of a rare form of Ehlers-Danlos syndrome called the kyphoscoliotic type (kEDS-FKBP14). Ehlers-Danlos syndrome is a group of disorders that affect the connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. The kyphoscoliotic type is characterized by an unusually large range of joint movement (hypermobility); weak muscle tone (hypotonia); severe, progressive curvature of the spine (kyphoscoliosis) that can interfere with breathing; and fragile blood vessels that can tear (rupture), leading to internal bleeding. When the kyphoscoliotic type is caused by FKBP14 gene mutations, affected individuals may also have muscle wasting (atrophy) and hearing loss that is present from birth.
At least four FKBP14 gene mutations have been found to cause the kyphoscoliotic type of Ehlers-Danlos syndrome. These mutations, which affect both copies of the gene in each cell, abnormally copy (duplicate) or delete a small amount of DNA from the gene. The extra or missing genetic material prevents the gene from making functional FKBP prolyl isomerase 14. A loss of this protein disrupts the activities of the endoplasmic reticulum, including folding procollagens and processing other components of the extracellular matrix. As a result, the extracellular matrix becomes disorganized, which weakens connective tissues throughout the body and leads to the signs and symptoms of the disorder.
More About This Health ConditionOther Names for This Gene
- 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
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- 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. Citation on PubMed
- 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. Citation on PubMed or Free article on PubMed Central
- 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. Citation on PubMed
- 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. Citation on PubMed
- 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. Citation on PubMed or Free article on PubMed Central
- 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. Citation on PubMed
- 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. Citation on PubMed
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