MTHFD1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human MTHFD1 wild-type allele is located in the vicinity of 14q24 and is approximately 72 kb in length. This allele, which encodes C-1-tetrahydrofolate synthase, cytoplasmic protein, is involved in the metabolism of folic acid. Mutation of the gene is associated with susceptibility to folate-sensitive neural tube defects.

**Synonyms:** - MTHFC - MTHFD - Methylenetetrahydrofolate Dehydrogenase (NADP+ Dependent) 1, Methenyltetrahydrofolate Cyclohydrolase, Formyltetrahydrofolate Synthetase wt Allele