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MUT
This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria.
Protein class
Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Plasma proteins
Predicted location
Intracellular
Single cell type specificity
Cell type enhanced (Cardiomyocytes, Syncytiotrophoblasts, Cytotrophoblasts, Extravillous trophoblasts, Hofbauer cells)
Immune cell specificity
Low immune cell specificity
Cell line specificity
Low cell line specificity
Interaction
Homodimer (PubMed:20876572). Interacts (the apoenzyme form) with MMAA; the interaction is GTP dependent (PubMed:20876572, PubMed:21138732, PubMed:28943303).
Molecular function
Isomerase
More Types Infomation
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- Derivation: Phage display library screening
- Species Reactivity: Human
- Type: IgG
- Application: WB, IHC, ICC
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For Research Use Only. Not For Clinical Use.