NCBI and Uniprot Product Information
NCBI 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]
Uniprot Description
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
Chromosomal Location of Human Ortholog: 7p14.3
Cellular Component: endoplasmic reticulum membrane; endoplasmic reticulum lumen
Molecular Function: peptidyl-prolyl cis-trans isomerase activity; FK506 binding; calcium ion binding
Biological Process: protein peptidyl-prolyl isomerization; cellular protein metabolic process; unfolded protein response, activation of signaling protein activity; unfolded protein response
Disease: Ehlers-danlos Syndrome With Progressive Kyphoscoliosis, Myopathy, And Hearing Loss
Research Articles on PYD
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Product Notes
The Mouse PYD fkbp14 (Catalog #AAA266655) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA266655 ELISA Kit recognizes Mouse PYD. It is sometimes possible for the material contained within the vial of "Pyridinoline (PYD), ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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