Methylmalonic aciduria and homocystinuria type C protein
Catalyzes the reductive dealkylation of cyanocobalamin to cob(II)alamin, using FAD or FMN as cofactor and NADPH as cosubstrate (PubMed:19700356, PubMed:21697092, PubMed:22642810). Can also catalyze the glutathione-dependent reductive demethylation of methylcobalamin, and, with much lower efficiency, the glutathione-dependent reductive demethylation of adenosylcobalamin (PubMed:19801555, PubMed:22642810, PubMed:25809485). Under anaerobic conditions cob(I)alamin is the first product; it is highly reactive and is converted to aquocob(II)alamin in the presence of oxygen (PubMed:19801555). Binds cyanocobalamin, adenosylcobalamin, methylcobalamin and other, related vitamin B12 derivatives (PubMed:21071249). The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding an ...more
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
check_circle Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
check_circle Active Drug: 0
Download Data for MMACHC
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Description of the protein which includes the UniProt Function and the NCBI Gene Summary.
Uniprot linked accession values, symbols or commonly used abbreviations associated with this particular target.
Approved gene symbol with link to HUGO Gene Nomenclature Committee.
Ensembl identifier links.
List of abbreviations or acronyms of the full target name.
Radar plot depicting the variety of knowledge obtained by Pharos for a particular target. The more spikes in the plot, the more variety. The longer the length, the higher the quantity of that particular knowledge. Clicking the illumination graph opens an expanded view to explore the plot fuller by seeing plot with annotations of the different radii.
Table representing the top 5 knowledge attributes in the illumination graph. The knowledge value property is on a scale of 0 to 1.
Gene symbols, accession ids and various other target identifiers. Also contains the illumination graph which highlights the amount of knowledge available. Click the '?' button for more information
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Hierarchical classifications for this protein from different ontologies.
Descriptions of the IDG illumination levels, highlighting the milestones attained in research for this target.
Jensen Lab generated fractional counting score for the prevalence of this gene in Pubmed articles.
Total count of NCBI Gene Reference Into Function hits for target listed in parenthesis, and summary table with links to publications per PMID with the specific text in article that includes the reported target.
Number of antibodies for this target listed in antibodypedia.com
Number of Gene Ontology (GO) annotations for this target, consisting of the sum of GO Functions and GO Processes.
Ligands associated with a target, listed in ChEMBL, with activity over a cutoff relative to the targetclass.