The MTRR gene homepage
| General information |
| Gene symbol |
MTRR |
| Gene name |
5-methyltetrahydrofolate-homocysteine methyltransferase reductase |
| Chromosome |
5 |
| Chromosomal band |
p15.31 |
| Imprinted |
- |
| Genomic reference |
NG_008856.1 |
| Transcript reference |
NM_002454.2 |
| Associated with diseases |
WD |
| Citation reference(s) |
Pan M et al, 2011
Zhang T et al, 2010 |
| Refseq URL |
Coding DNA reference sequence |
| Curators (0) |
- |
| Total number of public variants reported |
161 |
| Unique public DNA variants reported |
123 |
| Individuals with public variants |
0 |
| Hidden variants |
- |
| Notes |
Methionine is an essential amino acid required for protein synthesis and one-carbon metabolism. Its synthesis is catalyzed by the enzyme methionine synthase. Methionine synthase eventually becomes inactive due to the oxidation of its cob(I)alamin cofactor. The protein encoded by this gene regenerates a functional methionine synthase via reductive methylation. It is a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. Patients of the cbl-E complementation group of disorders of folate/cobalamin metabolism are defective in reductive activation of methionine synthase. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
Also known as: MSR; cblE |
| Date created |
May 01, 2013 |
Active transcripts
| Copyright & disclaimer |
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