| Dataset | GeneRIF Biological Term Annotations |
| Category | structural or functional annotations |
| Type | biological term |
| Description | methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria|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 and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009] (NCBI Entrez Gene Database, 25974) |
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3 genes co-occuring with the biological term mmachc in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
