MGP Database

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MGP005360

UniProt Annotations

Entry Information
Gene NameFK506 binding protein 14, 22 kDa
Protein EntryFKB14_HUMAN
UniProt IDQ9NWM8
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityPeptidylproline (omega=180) = peptidylproline (omega=0).
DiseaseEhlers-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; hearing impairment, which is predominantly sensorineural; normal ratio of lysyl pyridinoline to hydroxylysyl pyridinoline (LP/HP) in urine. {ECO:0000269|PubMed:22265013}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionPPIases accelerate the folding of proteins during protein synthesis.
SimilarityContains 1 PPIase FKBP-type domain. {ECO:0000255|PROSITE-ProRule:PRU00277}.
SimilarityContains 2 EF-hand domains. {ECO:0000255|PROSITE- ProRule:PRU00448}.
Subcellular LocationEndoplasmic reticulum lumen {ECO:0000255|PROSITE-ProRule:PRU10138, ECO:0000269|PubMed:22265013}.
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