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Description for Protein MMAB

methylmalonic aciduria (cobalamin deficiency) cblB type
1 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(platelet: 1)
Summary:
This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
2.5.1.17
KEGG - Orthology:
K00798
KEGG - Pathway(s):
hsa00860; hsa01100
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
ATR; ATP Cob(I) alamin Adenosyltransferase; Cob(I)alamin adenosyltransferase
Approved Symbol:
MMAB
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 1
Human (de-) phosphorylation sites: 1; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

  • Cyanocobalamin(db);
  • Hydroxocobalamin(db)

    Associated Genetic Diseases:

  • Methylmalonic aciduria, cblb type(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 07398 Entrez Gene ID: 326625 OMIM ID: 607568 Swissprot Accession: Q96EY8;