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FK506 binding protein 14, 22 kDa

The protein encoded by this gene is a member of the FK506-binding protein family of peptidyl-prolyl cis-trans isomerases. The encoded protein is found in the lumen of the endoplasmic reticulum, where it is thought to accelerate protein folding. Defects in this gene are a cause of a type of Ehlers-Danlos syndrome (EDS). Both a protein-coding variant and noncoding variants are transcribed from this gene. [provided by RefSeq, Mar 2012] (from NCBI)
Top mentioned proteins: CIs, CAN, SEPN1, FKBP9, apolipoprotein E
Papers on FKBP14
The neuromuscular differential diagnosis of joint hypermobility.
Voermans et al., In Am J Med Genet C Semin Med Genet, Mar 2015
In this review we will summarize the measures of joint hypermobility, illustrate molecular mechanisms these groups of disorders have in common, and subsequently discuss the clinical features of: 1) the most common connective tissue disorders with myopathic or other neuromuscular features: Ehlers-Danlos syndrome, Marfan syndrome and Loeys-Dietz syndrome; 2) myopathy and connective tissue overlap disorders (muscle extracellular matrix (ECM) disorders), including collagen VI related dystrophies and FKBP14 related kyphoscoliotic type of Ehlers-Danlos syndrome; and 3) various (congenital) myopathies with prominent joint hypermobility including RYR1- and SEPN1-related myopathy.
Excessively redundant umbilical skin as a potential early clinical feature of Morquio syndrome and FKBP14-related Ehlers-Danlos syndrome.
Alkuraya et al., Riyadh, Saudi Arabia. In Clin Genet, 2014
In this article, we report for the first time the occurrence of this distinct clinical sign in association with two other syndromes: Morquio syndrome and FKBP14-related Ehlers-Danlos syndrome (EDS).
Genotype-based databases for variants causing rare diseases.
Witsch-Baumgartner et al., Innsbruck, Austria. In Gene, 2014
The created databases include ACAD8 (isobutyryl-CoA dehydrogenase deficiency (IBD)), ACADSB (short-chain acyl-CoA dehydrogenase (SCAD) deficiency), AUH (3-methylglutaconic aciduria (3-MGCA)), DHCR7 (Smith-Lemli-Opitz syndrome), HMGCS2 (3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency), HSD17B10 (17-beta-hydroxysteroid dehydrogenase X deficiency), FKBP14 (Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss; EDSKMH) and ROGDI (Kohlschütter-Tönz syndrome).
FKBP14-related Ehlers-Danlos syndrome: expansion of the phenotype to include vascular complications.
Byers et al., Seattle, United States. In Am J Med Genet A, 2014
Biallelic mutations in FKBP14 cause a recessive form of Ehlers-Danlos syndrome (EDS) characterized by progressive kyphoscoliosis, myopathy, and hearing loss.
Structure of human peptidyl-prolyl cis-trans isomerase FKBP22 containing two EF-hand motifs.
Bächinger et al., Portland, United States. In Protein Sci, 2014
Four of them, FKBP22 (encoded by the FKBP14 gene), FKBP23 (FKBP7), FKBP60 (FKBP9), and FKBP65 (FKBP10), are unique among all FKBPs as they contain the EF-hand motifs.
FKBP14 is an essential gene that regulates Presenilin protein levels and Notch signaling in Drosophila.
Boulianne et al., Toronto, Canada. In Development, 2013
We previously identified FKBP14, a member of the family of FK506-binding proteins (FKBPs), as a modifier of Presenilin in Drosophila.
Whole body muscle MRI protocol: pattern recognition in early onset NM disorders.
WB-MRI muscle study group et al., Garches, France. In Neuromuscul Disord, 2012
Genetic diagnosis was obtained in 38 subjects (RYR1, LMNA, COL6, DNM2, GAA, TPM2, SGCA, MYH7, NEB, SMN, FKBP14).
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.
Fauth et al., Innsbruck, Austria. In Am J Hum Genet, 2012
study demonstrated FKBP14 is localized in the endoplasmic reticulum (ER) and that deficiency of FKBP14 leads to enlarged ER cisterns in dermal fibroblasts in vivo.
Epidermal growth factor receptor pathway gene expressions and biological response of glioblastoma multiforme cell lines to erlotinib.
Vougioukas et al., Heidelberg, Germany. In Anticancer Res, 2008
Functional annotation analysis revealed one (STATI) and two (FKBP14, RAC1) genes conclusively associated with sensitivity and resistance to erlotinib, respectively.
A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14-p22.
Al-Gazali et al., Amsterdam, Netherlands. In J Cardiovasc Electrophysiol, 2007
Sequencing of putative candidate genes, SP4, NPY, FKBP9, FKBP14, PDE1C, and TBX20, in and around this locus, did not reveal any mutation.
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