MTHFR

Entrez Summary: The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009].
UniProt Summary: Catalyzes the conversion of 5,10- methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co- substrate for homocysteine remethylation to methionine. {ECO:0000269|PubMed:25736335}.

Pfam Domains GO Terms

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Global Fraction of Cell Lines Where Essential: 0/739

Tissue	Fraction Of Cell Lines Where Essential
1290807.0	0/1
909776.0	0/1
bile duct	0/28
blood	0/28
bone	0/26
breast	0/33
central nervous system	0/56
cervix	0/4
colorectal	0/17
esophagus	0/13
fibroblast	0/1
gastric	0/16
kidney	0/21
liver	0/20
lung	0/75
lymphocyte	0/16
ovary	0/26
pancreas	0/24
peripheral nervous system	0/16
plasma cell	0/15
prostate	0/1
skin	0/24
soft tissue	0/9
thyroid	0/2
upper aerodigestive	0/22
urinary tract	0/29
uterus	0/5

Expression Distribution

response to vitamin B2
methylenetetrahydrofolate reductase (NAD(P)H) activity
heterochromatin maintenance
chromatin maintenance
modified amino acid binding
response to folic acid
tetrahydrofolate interconversion
homocysteine metabolic process
methionine biosynthetic process
heterochromatin organization
methionine metabolic process
sulfur amino acid biosynthetic process
S-adenosylmethionine metabolic process
tetrahydrofolate metabolic process
folic acid metabolic process
aspartate family amino acid biosynthetic process
one-carbon metabolic process
folic acid-containing compound metabolic process
FAD binding
pteridine-containing compound metabolic process
NADP binding
sulfur amino acid metabolic process
cellular component maintenance
aspartate family amino acid metabolic process
flavin adenine dinucleotide binding
regulation of histone methylation
alpha-amino acid biosynthetic process
cellular amino acid biosynthetic process
response to vitamin
water-soluble vitamin metabolic process
neural tube closure
tube closure
dicarboxylic acid metabolic process
primary neural tube formation
neural tube formation
response to amino acid
embryonic epithelial tube formation
vitamin metabolic process
epithelial tube formation
morphogenesis of embryonic epithelium