Gene: [14q24/MTHFD] methylenetetrahydrofolate dehydrogenase (EC:1.5.1.5); methenyltetrahydrofolate cyclohydrolase (EC:3.5.4.9); formyltetrahydrofolate synthetase (EC:6.3.4.3);
COM | Till 1985, the symbol ADEE (adenine<->E auxotrophs) was erroneously connected with phosphoribosylglycinamide formyltransferase (GEM:21q221/GART) deficiency. This enzyme activity is suppressed in MTHFH defects because of lack of 5-10-methenyltetrahydrofolate serving as a cofactor." |
FUN | The enzymes 5,10-methylenetetrahydrofolate dehydrogenase (EC:1.5.1.5), 5,10-methenyltetrahydrofolate cyclohydrolase (EC:3.5.4.9), and 10-formyltetrahydrofolate synthetase (EC:6.3.4.3) catalyze 3 sequential reactions in the interconversion of 1-carbon derivatives of tetrahydrofolate, which are substrates for methionine, thymidylate, and de novo purine syntheses." |
MOP | The 3 enzymatic activities are properties of a single protein, a homodimer of polypeptides of approximately 100 kD. The trifunctional enzyme consists of 2 major domains, an aminoterminal portion containing the dehydrogenase and cyclohydrolase activities and a larger synthetase domain." |
FAG | Intronless pseudogene is mapped to Chr Xp11 (GEM:0Xp11/MTHFDP1). |
REF | FUN "Barton JW &:
Genomics, 9, 314-321, 1991 COM,MAP "Henikoff &: PNAS, 83, N3, 720-724, 1986 PRO,SEQ,EXP,MOP "Hum DW &: JBC, 263, 15946-15950, 1988 LOC "Jones C &: CCG, 32, 288, 1982 LOC "Jones C &: Somat Cell Genet, 7, 399-409, 1981 PRO,SEQ,EXP,MOP "Peri KG &: NAR, 17, 8853-8853, 1989 LOC,MOL,CYG,REV,EAG "Rozen R &: AJHG, 44, N6, 781-786, 1989 |
SWI | SWISSPROT: P11586; MTDC P13995 |
KEY | nucm, vit |
CLA | coding, basic |
LOC | 14 q24 |
MIM | MIM: 172460 |
EZN | ENZYME: 1.5.1.5 |
