MMADHC

MMADHC, also known as MTHFD2L, is a gene that provides instructions for making an enzyme involved in one-carbon metabolism. This enzyme plays a role in the synthesis of purines and pyrimidines, which are essential building blocks for DNA and RNA. Additionally, it participates in the production of certain amino acids. The enzyme encoded by MMADHC is found in the mitochondria, the powerhouses of the cell.

Research suggests that MMADHC is important for normal embryonic development. Mutations in this gene have been associated with certain congenital disorders, though the exact spectrum of conditions and their prevalence are still under investigation. The precise mechanisms by which MMADHC dysfunction leads to these disorders are areas of ongoing scientific study. Understanding the role of MMADHC is crucial for comprehending fundamental cellular processes and for potentially developing diagnostic and therapeutic strategies for related health conditions. Further research is needed to fully elucidate its functions and clinical implications.