MTHFD1 gene

methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a protein that possesses three distinct enzymatic activities, 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase. Each of these activities catalyzes one of three sequential reactions in the interconversion of 1-carbon derivatives of tetrahydrofolate, which are substrates for methionine, thymidylate, and de novo purine syntheses. The trifunctional enzymatic activities are conferred by two major domains, an aminoterminal portion containing the dehydrogenase and cyclohydrolase activities and a larger synthetase domain. [provided by RefSeq, Jul 2008]

From NCBI Gene:

  • Neural tube defects, folate-sensitive

From UniProt:

Neural tube defects, folate-sensitive (NTDFS): The most common NTDs are open spina bifida (myelomeningocele) and anencephaly. [MIM:601634]

Colorectal cancer (CRC): A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. [MIM:114500]

MTHFD1 deficiency, due to mutation in this gene, can cause a metabolic syndrome with variable features including hyperhomocysteinemia, megaloblastic anemia, hemolytic uremic syndrome (HUS), severe combined immunodeficiency, microangiopathy and retinopathy. Symptoms improve after treatment with hydroxocobalamin, betaine and folinic acid.

Cytogenetic Location: 14q23.3, which is the long (q) arm of chromosome 14 at position 23.3

Molecular Location: base pairs 64,388,041 to 64,460,007 on chromosome 14 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 14q23.3, which is the long (q) arm of chromosome 14 at position 23.3