SHMT2

Chr 12AR

serine hydroxymethyltransferase 2

Also known as: GLYA, HEL-S-51e, NEDCASB, SHMT, mSHMT

NCBI Gene: 6472 ENSG00000182199 UniProt: P34897 OMIM: 138450

SHMT2 encodes the mitochondrial serine hydroxymethyltransferase that catalyzes the conversion of serine to glycine while generating 5,10-methylenetetrahydrofolate, which is essential for purine biosynthesis, mitochondrial DNA maintenance, and mitochondrial protein translation. Biallelic mutations cause autosomal recessive neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities. The gene is extremely intolerant to loss-of-function variants (pLI near 1), indicating that complete loss of function is likely incompatible with survival.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes the mitochondrial form of a pyridoxal phosphate-dependent enzyme that catalyzes the reversible reaction of serine and tetrahydrofolate to glycine and 5,10-methylene tetrahydrofolate. The encoded product is primarily responsible for glycine synthesis. The activity of the encoded protein has been suggested to be the primary source of intracellular glycine. The gene which encodes the cytosolic form of this enzyme is located on chromosome 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

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