SHMT2 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human SHMT2 wild-type allele is located in the vicinity of 12q13.3 and is approximately 5 kb in length. This allele, which encodes serine hydroxymethyltransferase, mitochondrial protein, plays a role in the metabolism of serine, tetrahydrofolate, glycine and thymidylate. Mutations in the gene are associated with neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities.

**Synonyms:** - GLY A+ - GLYA - Glycine Auxotroph A, Human Complement for Hamster Gene - HEL-S-51e - NEDCASB - SHMT - Serine Aldolase Gene - Serine Hydroxymethylase Gene - Serine Hydroxymethyltransferase 2 (Mitochondrial) Gene - Serine Hydroxymethyltransferase 2 wt Allele - Threonine Aldolase Gene - mSHMT