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FLASH GENE

Symbol

PCMT1

contributors: - updated : 08-03-2006

HGNC name	protein-L-isoaspartate (D-aspartate) O-methyltransferase
HGNC id	8728

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to neural tube defect

Variant & Polymorphism other	polymorphism (Ile120Val)associated with an increased risk of folate-responsive neural tube defect (genetic modifier for the risk of spina bifida)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS