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FLASH GENE

Symbol

MTHFR

contributors: SGE - updated : 29-07-2010

HGNC name	methylenetetrahydrofolate reductase (NAD(P)H)
HGNC id	7436

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

MTHFR , NTDS1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral       loss of function may protect against the development of hepatocellular carcinoma (Yuan 2008)

Susceptibility

to schizophrenia (rs801131) to increased mortality risk in men in middle and old age to recurrent abortus in early pregnancy to cardiovascular disease (CAD)

Variant & Polymorphism SNP , other	common variant putatively involved in occlusive vascular disease, neural tube defects, colon cancer and adult acute leukemia, cardiovascular disease, 677CT/1298CC or 677TT/1298CC genotypes, 677CT/1298AC
	polymorphisms increasing mortality risk in men in middle and old age
	maternal polymorphisms 677C-T and 1298A-C of MTHFR and risk for Down syndrome
	TT genotype was associated with an increased risk of CAD
	polymorphism associated with risk of metabolic syndrome in patients with schizophrenia (Van Winkel 2010)
	SNp is associated with blood pressure and/or hypertension in the Japanese (Takeuchi 2010)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS