| Tag | Content |
|---|---|
| Uniprot ID | P42898; B2R7A6; Q5SNW6; Q5SNW9; Q7Z6M6; Q8IU73; Q9UQR2; |
| Entrez ID | 4524 |
| Genbank protein ID | AAA74440.2; BAG35753.1; AAP88033.1; EAW71709.1; AAH53509.1; AAN40865.1; AAL17648.1; AAD17965.1; CAB41971.1; |
| Genbank nucleotide ID | XM_005263462.4; NM_001330358.1; XM_005263460.4; NM_005957.4; |
| Ensembl protein ID | ENSP00000365770; ENSP00000365775; ENSP00000365767; ENSP00000365777; |
| Ensembl nucleotide ID | ENSG00000177000 |
| Gene name | Methylenetetrahydrofolate reductase |
| Gene symbol | MTHFR |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | CPO,CL/P |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 20572854; 20082468; 27167580; 26110153; 23725631; 25745606; 24254627; 26236436; 18661527; 16470725; 15054400; 19419265; 12672677; 1159940; 20890936; 23787444; 25191068; 26540672; 15221800; 25219684; 26140186; 24460828; 27387868; 12796044; 21612398; 25808365; |
| Functional description | Catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. |
| Sequence | MVNEARGNSS LNPCLEGSAS SGSESSKDSS RCSTPGLDPE RHERLREKMR RRLESGDKWF 60 SLEFFPPRTA EGAVNLISRF DRMAAGGPLY IDVTWHPAGD PGSDKETSSM MIASTAVNYC 120 GLETILHMTC CRQRLEEITG HLHKAKQLGL KNIMALRGDP IGDQWEEEEG GFNYAVDLVK 180 HIRSEFGDYF DICVAGYPKG HPEAGSFEAD LKHLKEKVSA GADFIITQLF FEADTFFRFV 240 KACTDMGITC PIVPGIFPIQ GYHSLRQLVK LSKLEVPQEI KDVIEPIKDN DAAIRNYGIE 300 LAVSLCQELL ASGLVPGLHF YTLNREMATT EVLKRLGMWT EDPRRPLPWA LSAHPKRREE 360 DVRPIFWASR PKSYIYRTQE WDEFPNGRWG NSSSPAFGEL KDYYLFYLKS KSPKEELLKM 420 WGEELTSEES VFEVFVLYLS GEPNRNGHKV TCLPWNDEPL AAETSLLKEE LLRVNRQGIL 480 TINSQPNING KPSSDPIVGW GPSGGYVFQK AYLEFFTSRE TAEALLQVLK KYELRVNYHL 540 VNVKGENITN APELQPNAVT WGIFPGREII QPTVVDPVSF MFWKDEAFAL WIERWGKLYE 600 EESPSRTIIQ YIHDNYFLVN LVDNDFPLDN CLWQVVEDTL ELLNRPTQNA RETEAP 656 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.