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 (FKBP Prolyl Isomerase 14) is a Protein Coding gene. Diseases associated with FKBP14 include Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 and Muscular Dystrophy, Congenital, Lmna-Related. Among its related pathways are Unfolded Protein Response (UPR) and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include calcium ion binding and FK506 binding. An important paralog of this gene is FKBP7.
UniProtKB/Swiss-Prot Summary for FKBP14 Gene
PPIase which accelerates the folding of proteins during protein synthesis. Has a preference for substrates containing 4-hydroxylproline modifications, including type III collagen. May also target type VI and type X collagens.