FKBP14
FKBP14 is a gene which codes for a structural protein named FKBP prolyl isomerase 14.[1][2] This protein is believed to aid in the process of procollagen folding and is located in the endoplasmic reticulum that functions to process and transport proteins. Procollagens are collagen precursors located in the extracellular matrix that give tissues elasticity, strength, and support. This gene is involved in patterning the collagen structure. FKBP prolyl isomerase 14 may also be involved in altering other factors in the extracellular matrix. Mutations of this gene are associated with the kyphoscoliotic type of Ehlers-Danlos syndrome.[3] This condition is characterized by a high range of joint movement, muscle atrophy, curved spine, and delicate cardiovascular vessels. These symptoms are brought about by a loss of the protein which results in a disruption of endoplasmic reticulum activities and extracellular matrix organization. FKBP14 mRNA levels are found higher in ovarian cancer tissues than healthy ovarian tissue and knocked down expression of FKBP14 by lentiviral shRNA leads to an impaired proliferative ability of ovarian cancer cells.[4]
References
[edit]- ^ Reference, Genetics Home. "FKBP14 gene". ghr.nlm.nih.gov. US: United States National Library of Medicine. Retrieved 2019-04-14.
- ^ Baumann, Matthias; Giunta, Cecilia; Krabichler, Birgit; Rüschendorf, Franz; Zoppi, Nicoletta; Colombi, Marina; Bittner, Reginald E.; Quijano-Roy, Susana; Muntoni, Francesco; Cirak, Sebahattin; Schreiber, Gudrun; Zou, Yaqun; Hu, Ying; Romero, Norma Beatriz; Carlier, Robert Yves; Amberger, Albert; Deutschmann, Andrea; Straub, Volker; Rohrbach, Marianne; Steinmann, Beat; Rostásy, Kevin; Karall, Daniela; Bönnemann, Carsten G.; Zschocke, Johannes; Fauth, Christine (February 2012). "Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss". The American Journal of Human Genetics. 90 (2): 201–216. doi:10.1016/j.ajhg.2011.12.004. PMC 3276673. PMID 22265013.
- ^ Aldeeri AA, Alazami AM, Hijazi H, Alzahrani F, Alkuraya FS (November 2014). "Excessively redundant umbilical skin as a potential early clinical feature of Morquio syndrome and FKBP14-related Ehlers-Danlos syndrome". Clin Genet. 86 (5): 469–72. doi:10.1111/cge.12414. PMID 24773188. S2CID 22680977.
- ^ Lu M, Miao Y, Qi L, Bai M, Zhang J, Feng Y (2016). "RNAi-Mediated Downregulation of FKBP14 Suppresses the Growth of Human Ovarian Cancer Cells". Oncol Res. 23 (6): 267–74. doi:10.3727/096504016X14549667333963. PMC 7838629. PMID 27131312.
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