Abbreviation: | MTHFR |
Aliases: | 5,10-methylenetetrahydrofolate reductase (NADPH) |
Gene Symbol: | MTHFR |
SubUnit: |
Type: | 5,10-methylenetetrahydrofolate reductase |
Main Action: | Breakdown of homocysteine |
Genomic Reference Sequence: | NG_013351.1 |
Locus Reference Genomic (LRG): | LRG_726 |
LOVD: | https://databases.lovd.nl/shared/genes/MTHFR |
Locus Specific Database (LSDB): | |
Amino Acid Numbering Conversion Factor (Old > New;+/-): |
Variant Details: MTHFR (1)
Predicted Mr (da): | 74,597 |
Predicted pl: | 5 |
Gene Size (bp): | 20,242 |
Transcript Size (nt): | 7,108 |
Number of Exons: | 12 |
Gene Location: | 1p36.3 |
Number of Amino Acids: | 656 |
Mature Protein: | 656 |
Observer Mr of Monomer (kDa): | 77 |
Plasma Concentration (ug/ml): | NA |
Plasma Molarity (nM): | NA |
Half-life (h): | NA |
cDNA Reference Sequence (NM): | NM_005957.4 |
Protein Reference Sequence (NP): | NP_005948.3 |
Reference cDNA Sequence +1ATG (fasta format): | https://coagbase.org/wp-content/uploads/2022/01/NM_005957.fasta |
Reference cDNA Sequence +1ATG (GenBank format): | https://coagbase.org/wp-content/uploads/2022/01/NM_005957.gb |
Reference cDNA Sequence +1ATG with translation and exons marked (pdf format): | https://coagbase.org/wp-content/uploads/2022/01/NM_005957_MTHFR.pdf |