{"symbol":"FKBP14","synonyms":["FKBP22","IPBP12","EDSKMH","EDSKSCL2"],"name":"FK506 binding protein 14, 22 kDa","description":"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]","ncbiEntrezGeneId":55033,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/55033","proteins":[{"symbol":"FKB14_HUMAN","href":"/api/1.0/protein/FKB14_HUMAN"}],"hgncRootFamilies":[{"name":"EF-hand domain containing","href":"/api/1.0/gene_family/EF-hand+domain+containing"},{"name":"Peptidylprolyl isomerases","href":"/api/1.0/gene_family/Peptidylprolyl+isomerases"}]}