| Gene Information | |
|---|---|
| Gene Name | MTHFR |
| Organism | Homo sapiens (Human) |
| Gene Length | 656 |
| Protein Names | Methylenetetrahydrofolate reductase (NADPH) (EC 1.5.1.53) |
| Target Name | methylenetetrahydrofolate reductase |
| Target Type | NA |
| Gene Age | >4290 ( ENSG00000177000 ) |
| Evolutionary Stage | Euk+Bac |
| AlphaFoldDB | P42898 |
| Gene Card | MTHFR |
| Uniprot ID | P42898 |
| Pfam | PF02219 |
| In ASD | yes |
| Allosteric Prediction | yes (1.229490914) |
| Ortholog in Animals | Alpaca_ MTHFR ( ortholog_one2one ) Dog_ MTHFR ( ortholog_one2one ) GuineaPig_ MTHFR ( ortholog_one2one ) Macaque_ MTHFR ( ortholog_one2one ) Mouse_ Mthfr ( ortholog_one2one ) Pig_ MTHFR ( ortholog_one2one ) Rat_ Mthfr ( ortholog_one2one ) Rabbit_ MTHFR ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | MTR, BHMT2, BHMT, UROD |
| Tissue | NA |
| Tissue Specificity | NA |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 6FCX (X-ray 2.50A ) |
| DBSNP | rs776483190 rs138189536 rs201618781 rs754980119 rs786204007 rs763539350 rs2066472 rs786204009 rs147257424 rs769381688 rs786204012 rs786204013 rs767890671 rs121434295 rs1182635980 rs574132670 rs760161369 rs786204014 rs1801133 rs200100285 rs748571395 rs786204017 rs786204018 rs373398993 rs786204019 rs121434297 rs267606887 rs371085894 rs748289202 rs543016186 rs368321176 rs267606886 rs786204021 rs786204022 rs779993607 rs786204023 rs786204024 rs121434296 rs750323424 rs1430872491 rs200137991 rs45571736 rs1801131 rs754015864 rs786204026 rs45496998 rs45449298 rs786204028 rs2274974 rs144508139 rs786204031 rs983672500 rs2274976 rs786204034 rs786204037 rs35737219 |
| Subcellular location [CC] | NA |
| Mouse PG classification | NA |
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