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NEDCASB

Chr 12

serine hydroxymethyltransferase 2

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

NCBI Gene: 6472

This gene encodes the mitochondrial form of serine hydroxymethyltransferase, a pyridoxal phosphate-dependent enzyme that catalyzes the conversion of serine and tetrahydrofolate to glycine and 5,10-methylene tetrahydrofolate and serves as the primary source of intracellular glycine synthesis. Biallelic mutations cause an autosomal recessive neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities. This multisystem disorder affects both the central nervous system and cardiac function, reflecting the critical role of glycine metabolism in cellular development and function.

ResearchSummary from RefSeq, OMIM

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]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Some data sources returned errors (3)