MTHFD1L

Description

The MTHFD1L (methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like) is a protein-coding gene located on chromosome 6.

The MTHFD1L gene encodes a mitochondrial enzyme called monofunctional C1-tetrahydrofolate synthase, also known as formyltetrahydrofolate synthetase. This enzyme is involved in the synthesis of tetrahydrofolate (THF), a crucial molecule for various metabolic processes. THF derivatives are essential for the synthesis of purines and thymidylate, as well as for methylation reactions. MTHFD1L, unlike its counterpart MTHFD1, only possesses formyltetrahydrofolate synthetase activity. Genetic variations in MTHFD1L have been linked to neural tube defects, and its expression can be regulated by microRNAs. The enzyme's function is to link mitochondrial and cytoplasmic one-carbon folate metabolism, acting as a complementary enzyme to MTHFD2.

MTHFD1L plays a crucial role in linking mitochondrial and cytoplasmic one-carbon folate metabolism, acting as a complementary enzyme to MTHFD2.

MTHFD1L is also known as FTHFSDC1, MTC1THFS, dJ292B18.2.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing