MTR (NM_000254) - 5-methyltetrahydrofolate-homocysteine methyltransferase
Methionine Synthase Isoform 1
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Protein
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Protein summary
This gene encodes the 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. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014].
- Strand
- +
- Chromosome
- 1
- Protein
- 1265 residues
- All mutations
- 223
- PTM sites
- 55
- CDS
- 236,959,003 - 237,060,944
- Transcription
- 236,958,580 - 237,067,281
Usage summary
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PTM site
Kinases group
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Kinase, PTM site or protein
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