This gene encodes the mitochondrial form of a pyridoxal phosphate-dependent enzyme that catalyzes the reversible reaction of serine and tetrahydrofolate to glycine and 5,10-methylene tetrahydrofolate. The encoded product is primarily responsible for glycine synthesis. The activity of the encoded protein has been suggested to be the primary source of intracellular glycine. The gene which encodes the cytosolic form of this enzyme is located on chromosome 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Function:
Contributes to the de novo mitochondrial thymidylate biosynthesis pathway. Required to prevent uracil accumulation in mtDNA. Interconversion of serine and glycine. Associates with mitochondrial DNA.
Subcellular Location:
Mitochondrion. Mitochondrion matrix > mitochondrion nucleoid. Mitochondrion inner membrane.
Similarity:
Belongs to the SHMT family.
SWISS:
P34897
Gene ID:
6472
Database links:
Entrez Gene: 6472 Human
Entrez Gene: 108037 Mouse
Entrez Gene: 299857 Rat
Omim: 138450 Human
SwissProt: P34897 Human
Unigene: 741179 Human
|
|