The MTR gene homepage
| General information |
| Gene symbol |
MTR |
| Gene name |
5-methyltetrahydrofolate-homocysteine methyltransferase |
| Chromosome |
1 |
| Chromosomal band |
q43 |
| Imprinted |
- |
| Genomic reference |
NG_008959.1 |
| Transcript reference |
NM_000254.2 |
| 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 |
220 |
| Unique public DNA variants reported |
182 |
| Individuals with public variants |
0 |
| Hidden variants |
- |
| Notes |
MTR encodes the enzyme 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency complementation group G. [provided by RefSeq, Jul 2008]
Also known as:MS; cblG |
| Date created |
May 01, 2013 |
Active transcripts
| Copyright & disclaimer |
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