FK506 Binding Protein 14 (FKBP14) Antibody – Rabbit Polyclonal

FKBP14: PPIases accelerate the folding of proteins during protein synthesis. Defects in FKBP14 are the cause of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss (EDSKMH). A syndrome with features of Ehlers-Danlos syndrome types VIA and VIB on the one hand, and the collagen VI- related congenital myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy on the other hand. Clinically, this disorder is characterized by the following features: severe generalized hypotonia at birth with marked muscle weakness that improve in infancy; early-onset progressive kyphoscoliosis; joint hypermobility without contractures; hyperelastic skin with follicular hyperkeratosis, easy bruising, and occasional abnormal scarring; myopathy as confirmed by muscle MRI, histology, and electron microscopy; hearing impairment, which is predominantly sensorineural; and a normal ratio of lysyl pyridinoline to hydroxylysyl pyridinoline (LP/HP) in urine.

Protein type: Secreted; Secreted, signal peptide; EC 5.2.1.8; Isomerase

Cellular Component: endoplasmic reticulum membrane

Molecular Function: peptidyl-prolyl cis-trans isomerase activity; FK506 binding; calcium ion binding

Biological Process: protein peptidyl-prolyl isomerization