ST20-MTHFS Gene: Function, Expression, and Clinical Significance

ST20-MTHFS is a read-through transcript located on chromosome 15 at 15q25.1. This gene is formed by the fusion of two neighboring genes: ST20 (also known as ST20) and MTHFS (5,10-methenyltetrahydrofolate synthetase). The read-through produces a single mRNA transcript that encodes a protein with domains from both parental genes. The MTHFS portion of the protein is known to be involved in folate metabolism, specifically catalyzing the conversion of 5-formyltetrahydrofolate to 5,10-methenyltetrahydrofolate. The function of the ST20 portion is less well characterized, but it may play a role in cellular processes. The read-through transcript is expressed in various tissues and has been implicated in some cancers, although its specific biological role is still under investigation.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Folate Metabolism (Reactome: R-HSA-196757)

• One-carbon metabolism

The ST20-MTHFS protein is a fusion protein encoded by a read-through transcript. It contains an N-terminal domain from the ST20 protein and a C-terminal domain from the MTHFS protein. The MTHFS domain is predicted to have 5-formyltetrahydrofolate cyclo-ligase activity, which is involved in the interconversion of folate derivatives. The ST20 domain's function is less clear but may be involved in protein-protein interactions. The protein is predicted to be localized in the cytosol. Its exact biological role is still being studied, but it may play a role in regulating folate metabolism and cellular growth.