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FKBP14
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For Research Use Only. Not For Clinical Use.
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]
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets
Predicted location
Intracellular
Single cell type specificity
Low cell type specificity
Immune cell specificity
Not detected in immune cells
Cell line specificity
Low cell line specificity
Interaction
Monomer (PubMed:24821723, PubMed:24272907). Homodimer (PubMed:24821723, PubMed:24272907). Interacts with type III, type IV and type X collagens (PubMed:24821723).
Molecular function
Isomerase, Rotamase
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