SHMT2
Description
SHMT2, or Serine Hydroxymethyltransferase 2, is a vital enzyme that plays a crucial role in one-carbon metabolism. This enzyme catalyzes the reversible transfer of a one-carbon unit from serine to tetrahydrofolate, generating glycine and 5,10-methylenetetrahydrofolate. This reaction is essential for various metabolic processes, including nucleotide biosynthesis, amino acid metabolism, and folate metabolism. SHMT2 is primarily found in mitochondria, where it participates in the synthesis of purines, thymidylate, and methionine. Its activity is tightly regulated by several factors, including folate availability, cellular energy status, and substrate availability.
Associated Diseases
- Cancer: Altered SHMT2 expression has been linked to various cancers, including colorectal, lung, and breast cancers.
- Neurological disorders: SHMT2 mutations have been associated with neurological conditions like autism spectrum disorder and intellectual disability.
- Metabolic disorders: Disruptions in SHMT2 activity can contribute to metabolic disorders like homocystinuria and folate-responsive megaloblastic anemia.
- Cardiovascular disease: Some studies suggest a potential link between SHMT2 variations and cardiovascular disease risk.
Did you know?
SHMT2 is a fascinating example of how a single enzyme can impact a wide range of metabolic pathways, highlighting its critical role in maintaining cellular health and function.
