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FKBP14 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.
Gene Name: | FK506 binding protein 14, 22 kDa |
Synonyms: | FKBP14, 22 kDa FK506-binding protein, 22 kDa FKBP, FK506-binding protein 14, EDSKMH, IPBP12, FKBP-14, FKBP-22, FKBP22, Rotamase, PPIase FKBP14 |
Target Sequences: | NM_017946 NP_060416.1 Q9NWM8 |
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