Aliases for FKBP14 Gene
External Ids for FKBP14 Gene
Previous GeneCards Identifiers 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) 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 Transport to the Golgi and subsequent modification and Unfolded Protein Response (UPR). 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.