2020年7月1日 · In eucaryotic cells, methionine synthase reductase (MSR/MTRR) is capable of dominating the folate-homocysteine metabolism as an irreplaceable partner in electron transfer for regeneration of methionine synthase. The N -terminus of MTRR containing a conserved domain of FMN_Red is closely concerned with the oxidation–reduction process.

1999年11月15日 · Methionine synthase reductase (EC 2.1.1.135) is a flavoprotein essential for maintenance of methionine synthase in an active state. We characterized the human gene for methionine synthase reductase (MTRR). The gene is approximately 34 kb and comprises 15 exons, varying in size from 43 to 1213 bp, and 14 introns whose sizes vary from 108 bp to 5 kb.

2024年12月25日 · MTRR (5-Methyltetrahydrofolate-Homocysteine Methyltransferase Reductase) is a Protein Coding gene. Diseases associated with MTRR include Homocystinuria-Megaloblastic Anemia, Cble Type and Neural Tube Defects, Folate-Sensitive .

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA. Click here to load the transcript sequence and exon structure into Primer3Plus. Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence. Click here to open Exonprimer with this ...

Methionine synthase reductase, also known as MSR, is an enzyme that in humans is encoded by the MTRR gene. [5][6] Methionine is an essential amino acid required for protein synthesis and one-carbon metabolism. Its synthesis is catalyzed by the enzyme methionine synthase.

2024年3月5日 · Transcript Variant: This variant (5) lacks an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a …

1999年11月15日 · Methionine synthase reductase (EC 2.1.1.135) is a flavoprotein essential for maintenance of methionine synthase in an active state. We characterized the human gene for methionine synthase reductase (MTRR). The gene is approximately 34kb and comprises 15 exons, varying in size from 43 to 1213bp, and …

2017年7月15日 · A trinucleotide deletion (c.4_6delAGG) was identified in the first exon of MTRR. All the three women showed the novel clinical variation including one heterozygous and two homozygous. The siblings who had healthy babies from …

A trinucleotide deletion (c.4_6delAGG) was found in the first exon of MTRR only in the affected women, but not in their siblings with healthy babies or in controls. The Arg2del variant's subcellular localization and catalysis was unchanged, but it failed to efficiently activate MTR.

A trinucleotide deletion (c.4_6delAGG) was identified in the first exon of MTRR. All the three women showed the novel clinical variation including one heterozygous and two homozygous. The siblings who had healthy babies from the same families did not harbor the variation.