Gene: MTHFD1L

Alternate names for this Gene: FTHFSDC1|MTC1THFS|dJ292B18.2

Gene Summary: The protein encoded by this gene is involved in the synthesis of tetrahydrofolate (THF) in the mitochondrion. THF is important in the de novo synthesis of purines and thymidylate and in the regeneration of methionine from homocysteine. Several transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 6

Location in Chromosome : 6q25.1

Description of this Gene: methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like

Type of Gene: protein-coding

rs11754661 in MTHFD1L gene and Alzheimer's Disease PMID 20885792 2010 Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities.

rs1771798 in MTHFD1L gene and Corneal Topography PMID 22003120 2011 Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus.

rs6907487 in MTHFD1L gene and Coronary Artery Disease PMID 17634449 2007 Genomewide association analysis of coronary artery disease.

rs6922269 in MTHFD1L gene and Coronary heart disease PMID 17634449 2007 Genomewide association analysis of coronary artery disease.

PMID 21347282 2011 Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

rs9397365 in MTHFD1L gene and Peripheral Arterial Diseases PMID 27082954 2016 Genetic Variants in the Bone Morphogenic Protein Gene Family Modify the Association between Residential Exposure to Traffic and Peripheral Arterial Disease.

rs524732 in MTHFD1L gene and Schizophrenia PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.