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FLASH GENE

Symbol

CYP2R1

contributors: mct - updated : 29-04-2014

HGNC name	cytochrome P450, family 2, subfamily R, polypeptide 1
HGNC id	20580

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

VDHR

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in endometrial carcinoma, correlated directly with nuclear VDR levels, an indicator of ligand-induced VDR activation tumoral     --over   in renal cell carcinoma constitutional     --low   in hypospermatogenesis and Sertoli-cell-only syndrome

Susceptibility

to vitamin D response variation in postmenopausal women type 1 diabetes to vitamin D insufficiency, and multiple sclerosis

Variant & Polymorphism other	DNA methylation levels of CYP2R1 predict vitamin D response variation in postmenopausal women
	association of CYP2R1 polymorphisms in patients with type 1 diabetes and with their circulating levels of 25(OH)D3 (PMI: 17607662)
	rs117913124 associated with an increased risk of vitamin D insufficiency, and increased odds of multiple sclerosis (

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS