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FLASH GENE

Symbol

GC

contributors: mct - updated : 22-01-2020

HGNC name	group-specific component (vitamin D binding protein)
HGNC id	4187

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   significantly increased in the ectopic endometrial tissue compared with that in the normal endometrial tissue constitutional     --low   is confirmed and marked in multivessel disease patients

Susceptibility

to obstructive sleep apnea syndrome (OSAS) to epilepsy to Parkinson disease(PD) to inflammatory bowel diseases (IBDs)

Variant & Polymorphism other	VDBP mutations were found highly related with OSAS
	polymorphisms of GC rs4588 and rs2282679 may play a potentially important role in epilepsy susceptibility in Chinese Han population
	rs7041 of GC is associated with the PD risk
	GC concentrations are inversely associated with hyperinsulinemia and insulin resistance
	haplotype DBP_2, consisting of 416 Asp and 420 Lys, was more frequent in the non-IBD population

Candidate gene
Marker	high plasma GC predicts lower incidence of gastrointestinal and ear infections in school-age children independent of 25(OH)D
	higher (versus lower) circulating GC may be independently associated with a decreased prostate cancer risk in black men independent of 25(OH)D status
	could be an autoantigen in T1 Diabetes
	GC gene polymorphism could be a potential marker for screening of chronic obstructive pulmonary disease (COPD)
	urinary GC may be a novel urinary biomarker of tubulointerstitial damage
Therapy target

ANIMAL & CELL MODELS