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Details of FKBP14 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| FKBP14 | FKBP22 | Q9NWM8 | FKB14_HUMAN | 55033 | ENSG00000106080 | Peptidyl-prolyl cis-trans isomerase FKBP14 | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| 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 hearing impairment, which is predominantly sensorineural normal ratio of lysyl pyridinoline to hydroxylysyl pyridinoline (LP/HP) in urine. Note=The disease is caused by mutations affecting the gene represented in this entry. | 614557 | ||||||||
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Fkbp14 | Fkbp13 | fkb-7 | --- | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|