InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MTHFR

Summary

InnateDB Protein

IDBP-89659.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MTHFR

Protein Name

methylenetetrahydrofolate reductase (NAD(P)H)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000365775

InnateDB Gene

IDBG-89655 (MTHFR)

Protein Structure

UniProt Annotation

Function

Catalyzes the conversion of 5,10- methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co- substrate for homocysteine remethylation to methionine.

Subcellular Localization

Disease Associations

Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]: Autosomal recessive disorder with a wide range of features including homocysteinuria, homocysteinemia [MIM:603174], developmental delay, severe mental retardation, perinatal death, psychiatric disturbances, and later-onset neurodegenerative disorders. {ECO:0000269PubMed:10679944, ECO:0000269PubMed:7726158, ECO:0000269PubMed:8940272, ECO:0000269PubMed:9781030}. Note=The disease is caused by mutations affecting the gene represented in this entry.Ischemic stroke (ISCHSTR) [MIM:601367]: A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. Ischemic strokes, resulting from vascular occlusion, is considered to be a highly complex disease consisting of a group of heterogeneous disorders with multiple genetic and environmental risk factors. {ECO:0000269PubMed:15534175}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Folate-sensitive neural tube defects (FS-NTD) [MIM:601634]: The most common NTDs are open spina bifida (myelomeningocele) and anencephaly. {ECO:0000269PubMed:10323741, ECO:0000269PubMed:7564788, ECO:0000269PubMed:8826441}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	1 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004489	methylenetetrahydrofolate reductase (NADPH) activity
GO:0072341	modified amino acid binding

Biological Process

GO:0006520	cellular amino acid metabolic process
GO:0006555	methionine metabolic process
GO:0006766	vitamin metabolic process
GO:0006767	water-soluble vitamin metabolic process
GO:0008015	blood circulation
GO:0035999	tetrahydrofolate interconversion
GO:0044281	small molecule metabolic process
GO:0046655	folic acid metabolic process
GO:0050667	homocysteine metabolic process
GO:0055114	oxidation-reduction process