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 ?
Four of these five isolates had a novel NG-MAST sequence type, and all four isolates sequenced had a novel combination of mutations involving the 23S rRNA gene and the coding region of the mtrR gene associated with N.
Sequencing of the 23S rRNA and mtrR coding regions of the four sequenced isolates, which demonstrated identical mutations, further supports the isolates' relatedness.
A66G polymorphism analysis of MTRR gene showed that favorable homozygous genotype (AA) was significantly less frequent in the index group (46.
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.
Neisseria gonorrhoeae isolates with reduced susceptibility to cefixime and ceftriaxone: association with genetic polymorphisms in penA, mtrR, porB1b, and ponA.
Analysis of the mtrR gene and its promoter identified a single nucleotide (A) deletion in the inverted repeat of the promoter region, and a single amino acid substitution at position H105 (H [right arrow] Y).
Overexpression of the MtrC- MtrD- MtrE efflux pump due to an mtrR mutation is required for chromosomally mediated penicillin resistance in Neisseria gonorrhoeae.
For the C allele subset, rs1801394 in MTRR was significant by APL in the broad group (p = 0.
Genetic variants such as MTHFR, MTR, MTRR, PEMT and BHMT will lower the SAMe needed for optimal levels of BH4.
So, in summary, MTRR makes methyl B12 from a methyl donor and B12 (such as hydroxocobalamin or cyanocobalmin), and MIR combines the methyl B12 and the methyl folate to turn homocysteine into methionine.
MTHFR 1298A>C (10, 11), MTR 2756A>G (12-14), MTRR 66A>G (15-17), and CBS 844ins68 (18-21) have been associated with hyperhomocysteinemia, neural tube defects, and colorectal cancer.
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.