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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

OIDP , BRKS1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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