Bovine FK506 binding protein 1A, 12kDa ELISA Kit | FKBP1A elisa kit
Bovine Peptidyl-prolyl cis-trans isomerase FKBP1A, FKBP1A ELISA Kit
NCBI and Uniprot Product Information
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, signal peptide; Secreted; EC 5.2.1.8; Isomerase
Chromosomal Location of Human Ortholog: 7p14.3
Cellular Component: endoplasmic reticulum membrane; endoplasmic reticulum lumen
Molecular Function: FK506 binding; peptidyl-prolyl cis-trans isomerase activity; 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
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Product Notes
The Bovine FKBP1A fkbp1a (Catalog #AAA9330524) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9330524 ELISA Kit recognizes Bovine FKBP1A. It is sometimes possible for the material contained within the vial of "FK506 binding protein 1A, 12kDa, 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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