MTRR

(redirected from 5-methyltetrahydrofolate-homocysteine methyltransferase reductase)

MTRR

A gene on chromosome 5p15.31 that encodes an enzyme involved in the reductive regeneration of cob(I)alamin cofactor required for maintaining methionine synthase in a functional state.

Molecular pathology
Defects in MTRR cause methylcobalamin deficiency type E and folate-sensitive neural tube defects.
References in periodicals archive ?
4] Human genes: MTHFR, methylenetetrahydrofolate reductase (NAD(P)H); MTR, 5-methyltetrahydrofolate-homocysteine methyltransferase; MTRR, 5-methyltetrahydrofolate-homocysteine methyltransferase reductase; MMADHC, 5-methyltetrahydrofolate-homocysteine methyltransferase reductase.
METHODS: In 304 Caucasian American NTD families with myelomeningocele or anencephaly, we examined 28 polymorphisms in 11 genes: folate receptor 1, folate receptor 2, solute carrier family 19 member 1, transcobalamin II, methylenetetrahydrofolate dehydrogenase 1, serine hydroxymethyltransferase 1, 5,10-methylenetetrahydrofolate reductase (MTHFR), 5-methyltetrahydrofolate-homocysteine methyltransferase, 5-methyltetrahydrofolate-homocysteine methyltransferase reductase, betaine-homocysteine methyltransferase (BHMT), and cystathionine-beta-synthase.

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