FKBP14
Function
PPIase which accelerates the folding of proteins during protein synthesis. Has a preference for substrates containing 4-hydroxylproline modifications, including type III collagen. May also target type VI and type X collagens.
Involvement in disease
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
EDSKSCL2
A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSKSCL2 is an autosomal recessive form characterized by severe generalized hypotonia at birth, myopathy, early-onset progressive kyphoscoliosis, joint hypermobility without contractures, hyperelastic skin with follicular hyperkeratosis, easy bruising, and occasional abnormal scarring, sensorineural hearing impairment, and normal pyridinoline excretion in urine.
None
The disease is caused by variants affecting the gene represented in this entry.
Cellular localization
- Endoplasmic reticulum lumen
Alternative names
FKBP22, UNQ322/PRO381, FKBP14, Peptidyl-prolyl cis-trans isomerase FKBP14, PPIase FKBP14, 22 kDa FK506-binding protein, FK506-binding protein 14, Rotamase, 22 kDa FKBP, FKBP-22, FKBP-14