MTRR


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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 ?
Materials and methods: Blood samples of 117 infertile (66 azoospermia, 51 oligozoospermia) cases and 70 healthy men were collected and genotyped for MTR A2756G and MTRR A66G polymorphisms.
MTRR A66G genotypes were 9% AA, 79% AG, 13% GG in control group and 4% AA, 73% AG, 23% GG in control group without statistically significant difference (p>0.
For the C allele subset, rs1801394 in MTRR was significant by APL in the broad group (p = 0.
FOLR1 folate receptor 1 NM_016725 FOLR2 folate receptor 2 NM_000803 SLC19A1 solute carrier family 19 member 1 U15939 TCN2 transcobalamin II NM_000355 MTHFD1 methylenetetrahydrofolate dehydrogenase 1 J04031 SHMT1 serine hydroxyl-methyltranferase 1 NM_004169 MTHFR 5,10 methylene-tetrahydrofolate reductase NM_005957 MTR 5-methyltetrahydrofolate-homocysteine NM_000254 methyltransferase rs12060570 Intronic MTRR 5-methyltetrahydrofolate-homocysteine AF025794 methyltransferase reductase BHMT betaine-homocysteine methyltransferase BC012616 CBS cystathionine-beta-synthase NM_000071 Gene symbol rs no.
Overexpression of the MtrC- MtrD- MtrE efflux pump due to an mtrR mutation is required for chromosomally mediated penicillin resistance in Neisseria gonorrhoeae.
The method detects MTHFR 677C>T, MTHFR 1298A>C, MTR 2756A>G, MTRR 66A>G, CBS 844ins68, CBS 699C>T, BHMT 742G>A, RFC1 80G>A, TCII 67A>G, TCII 776C>G, PON1 163T>A, and PON1 575A>G.
MTHFR 677C>T, MTHFR 1298A>C, MTR 2756A>G, and MTRR 66A>G were genotyped by a TaqMan real-time PCR assay, as described previously (61).
In this report, we demonstrate the successful detection of SNPs in untreated whole blood and serum by use of real-time PCR [using the 5'nuclease (TagMan[R]) assay (14)] as applied to the MTHFR C677T, MTHFR A1298C, MTR A2756G, and MTRR A66G polymorphisms.