Methylmalonyl-CoA mutase is essential to the degradation pathways of many molecules including amino acids, and odd-chain fatty acids.
22.
For amino acid metabolism, methylmalonyl-CoA mutase works in the degradation pathways of isoleucine, threonine, valine, and methionine.
23.
While methylmalonic acidemia has a variety of causes, both genetic and dietary, methylmalonyl CoA mutase deficiency is an autosomal recessive genetic disorder.
24.
In some cases intellectual and developmental disabilities, such as autism, were noted with increased frequency in populations with methylmalonyl-CoA mutase deficiency.
25.
Mutations in this gene cause muscle phosphoglycerate mutase deficiency, also known as glycogen storage disease X . [ provided by RefSeq, Sep 2009]
26.
Both phosphate and 2-phosphoglycolate are competitive inhibitors of mutase activity in respect to the substrates 2-phosphoglycerate and 2, 3-bisphosphoglycerate.
27.
Because the main function of bisphosphoglycerate mutase is the synthesis of 2, 3-BPG, this enzyme is found only in erythrocytes and placental cells.
28.
The ( " R " )-methylmalonyl-CoA is then converted to succinyl-CoA in a reaction catalyzed by methylmalonyl-CoA mutase.
29.
In methylmalonyl-CoA mutase the ?-axial ligand is 5-deoxy-5-adenosine and is involved in the free radical chemistry of the reaction.
30.
Phosphoglycerate mutase ( PGAM ) catalyzes the reversible reaction of 3-phosphoglycerate ( 3-PGA ) to 2-phosphoglycerate ( 2-PGA ) in the glycolytic pathway.
