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FLASH GENE

Symbol

MTHFD1

contributors: mct/npt/pgu - updated : 19-09-2012

HGNC name	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
HGNC id	7432

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

MTHFD1D

Susceptibility

to neural tube defect and spina bifida, folate-dependent to abdominal aortic aneurysm to congenital heart defects (CHD) to bipolar disorder and schizophrenia to early onset Alzheimer disease

Variant & Polymorphism other	maternal genotype QQ increasing the risk of neural tube defect-affected pregnancy
	R653Q increases the maternal risk for neural tube defects
	Arg653Gln polymorphism decreases enzyme stability and increases risk for CHD
	G1958A A allele might be a weak risk factor for early onset Alzheimer disease

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS