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

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