Aliases for FKBP14 Gene
External Ids for FKBP14 Gene
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]
GeneCards Summary for FKBP14 Gene
FKBP14 (FK506 Binding Protein 14, 22 KDa) is a Protein Coding gene. Diseases associated with FKBP14 include ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss and ehlers-danlos syndrome, kyphoscoliotic and deafness type. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Unfolded Protein Response. GO annotations related to this gene include calcium ion binding and FK506 binding. An important paralog of this gene is FKBP7.
UniProtKB/Swiss-Prot for FKBP14 Gene
PPIases accelerate the folding of proteins during protein synthesis