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FLASH GENE
Symbol FKBP10 contributors: mct/npt - updated : 06-03-2017
HGNC name FK506 binding protein 10, 65 kDa
HGNC id 18169
ASSOCIATED DISORDERS
corresponding disease(s) OIDP , BRKS1
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral     --low  
in epithelial ovarian cancer cells compared to benign tumor cells and to ovarian epithelium
constitutional     --low  
altered collagen crosslinking through FKBP10 ablation in osteoblasts primarily leads to a qualitative defect in the skeleton
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • in Fkbp10 knockout mice, collagen telopeptide hydroxylysine crosslinking is dramatically reduced
  • Fkbp10(-/-) mouse embryonic fibroblasts show retention of procollagen in the cell layer and associated dilated endoplasmic reticulum