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MMACHC
Anti-MMACHC Recombinant Antibody Products
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For Research Use Only. Not For Clinical Use.
MMACHC (Metabolism Of Cobalamin Associated C) is a Protein Coding gene. Its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Cobalamin (vitamin B12) cytosolic chaperone catalyzes the reductive decyanation of cyanocob(III)alamin (cyanocobalamin, CNCbl) to yield cob(II)alamin and cyanide. Diseases associated with MMACHC include Methylmalonic Aciduria And Homocystinuria, Cblc Type and Disorders Of Intracellular Cobalamin Metabolism.
Protein class
Disease related genes, Enzymes, Human disease related genes, Potential drug targets
Predicted location
Intracellular
Single cell type specificity
Cell type enhanced (Hepatocytes)
Immune cell specificity
Low immune cell specificity
Cell line specificity
Low cell line specificity
Interaction
Monomer in the absence of bound substrate (PubMed:21697092, PubMed:22642810). Homodimer; dimerization is triggered by binding to FMN or adenosylcobalamin (PubMed:22642810). Interacts with LMBRD1 and ABCD4; the interaction ensures the transport of cobalamin from the lysosome to the cytoplasm (PubMed:25535791). Forms a multiprotein complex with MMADHC, MTR and MTRR; the interaction with MTR could modulate MMACHC-dependent processing of cobalamin (PubMed:27771510). Heterodimer with MMADHC; the interaction might play a role in the regulation of the balance between AdoCbl and MeCbl synthesis (PubMed:21071249, PubMed:23415655, PubMed:26483544).
Molecular function
Oxidoreductase, Transferase
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