background:
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]
Function:
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.
Subcellular Location:
Cytoplasmic
Tissue Specificity:
Widely expressed. Expressed at the highest levels in pancreas, heart, brain, skeletal muscle and placenta. Expressed at lower levels in lung, liver and kidney.
DISEASE:
Homocystinuria-megaloblastic anemia, cblG complementation type (HMAG) [MIM:250940]: An autosomal recessive inborn error of metabolism resulting from defects in the cobalamin-dependent pathway that converts homocysteine to methionine. It causes delayed psychomotor development, megaloblastic anemia, homocystinuria, and hypomethioninemia.
Similarity:
Belongs to the vitamin-B12 dependent methionine
Contains 1 AdoMet activation domain.
Contains 1 B12-binding domain.
Contains 1 B12-binding N-terminal domain.
Contains 1 Hcy-binding domain.
Contains 1 pterin-binding domain.
Database links:
Entrez Gene: 4548 Human
Entrez Gene: 238505 Mouse
Entrez Gene: 81522 Rat
NCBI: 4557765 Human
SwissProt: Q99707 Human
SwissProt: A6H5Y3 Mouse
SwissProt: Q9Z2Q4 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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