| Gene Symbol | FKBP14 |
| Entrez Gene ID | 55033 |
| Full Name | FK506 binding protein 14 |
| Synonyms | EDSKMH,EDSKSCL2,FKBP22,IPBP12 |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | 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]. |
| Disorder MIM: | |
| Disorder Html: | Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557 (3) |









































User Manual