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]
Function:
PPIases accelerate the folding of proteins during protein synthesis.
Subcellular Location:
Endoplasmic reticulum lumen.
DISEASE:
Defects in FKBP14 are the cause of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss (EDSKMH) [MIM:614557]. 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.
Similarity:
Contains 2 EF-hand domains.
Contains 1 PPIase FKBP-type domain.
SWISS:
Q9NWM8
Gene ID:
55033
Database links:
Entrez Gene: 55033 Human
Entrez Gene: 231997 Mouse
Entrez Gene: 362366 Rat
Omim: 614505 Human
SwissProt: Q9NWM8 Human
SwissProt: P59024 Mouse
Unigene: 390838 Human
Unigene: 274693 Mouse
Unigene: 12713 Rat
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