5-methyltetrahydrofolate-homocysteine methyltransferase

Summary
Gene Symbol
  • MTR
Organism
Homo sapiens (human)
NCBI Gene
4548
PubChem
4548
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Cobalamin
  • Cytoplasm
  • Disease variant
  • Metal-binding
  • Methionine biosynthesis
  • Methyltransferase
  • Phosphoprotein
  • Reference proteome
  • Repeat
  • S-adenosyl-L-methionine
  • Zinc
Proteins
Displaying 1 entry
UniProt Protein Name
Q99707
  • 5-methyltetrahydrofolate--homocysteine methyltransferase
  • Cobalamin-dependent methionine synthase
  • Vitamin-B12 dependent methionine synthase
Gene Ontology (GO)
GO Hierarchy
Displaying 1 entry
GO Term Evidence Code PMID
cytosol
OrthoDB (Group)
Group level
Eukaryota
Group Name
homocysteine S-methyltransferase
Functional Category
  • E: Amino acid transport and metabolism
  • J: Translation, ribosomal structure and biogenesis
  • L: Replication, recombination and repair
Disease
Disease Ontology
Displaying entries 1 - 10 of 17 in total
DO ID Disease Name Source
DOID:0050696 fetal alcohol spectrum disorder
DOID:0050731 vitamin B12 deficiency
DOID:0050733 methylmalonic aciduria and homocystinuria type cblG
DOID:0080016 spina bifida
DOID:10763 hypertension
DOID:11054 urinary bladder cancer
DOID:114 heart disease
DOID:12849 autistic disorder
DOID:1793 pancreatic cancer
DOID:2986 IgA glomerulonephritis

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024