FKBP14 gene
The FKBP14 gene provides instructions for a protein that assists in the proper folding of collagen, a vital component of the body's connective tissues.
Normal Function
The FKBP14 gene provides instructions for making a protein called FKBP prolyl isomerase 14 (also known as FKBP22). This protein is found in the endoplasmic reticulum (ER), a cell structure involved in protein processing and transport. FKBP prolyl isomerase 14 assists with protein folding, particularly the folding of procollagens. Procollagens are the precursors of collagens, which are complex molecules that add strength, support, and elasticity to organs and tissues throughout the body.
Health Conditions Related to Genetic Changes
Ehlers-Danlos syndrome
Mutations in the FKBP14 gene are one cause of a rare form of Ehlers-Danlos syndrome called the kyphoscoliotic type (kEDS-FKBP14). This disorder affects connective tissues supporting the skin, bones, blood vessels, and other organs.
- Symptoms: The condition is characterized by an unusually large range of joint movement (hypermobility); weak muscle tone (hypotonia); severe, progressive curvature of the spine (kyphoscoliosis); and fragile blood vessels that can tear (rupture). Affected individuals may also have muscle wasting (atrophy) and hearing loss present from birth.
- Mechanism: Mutations in the FKBP14 gene prevent the gene from making functional FKBP prolyl isomerase 14. A loss of this protein disrupts the activities of the endoplasmic reticulum, including folding procollagens. As a result, the extracellular matrix becomes disorganized, weakening connective tissues throughout the body.
Other Names for This Gene
- 22 kDa FK506-binding protein
- 22 kDa FKBP
- EDSKMH
- FK506 binding protein 14
- FK506 binding protein 14, 22 kDa
- FKBP-22
- FKBP22
- FLJ20731
- IPBP12
- peptidyl-prolyl cis-trans isomerase FKBP14 precursor
- PPIase FKBP14
- rotamase