NIH R01 · 2025
B12 Trafficking and Inherited Defects
Vitamin B12 (or cobalamin) supports just two enzymes in the human proteome, but its absence is incompatible with life. This high value dietary commodity is escorted by an elaborate system of chaperones to its two client enzymes: methionine synthase (MS) in the cytoplasm and methylmalonyl-CoA mutase (MCM) in the mitochondrion. Clues to the complexity and multicompartment geography of the B12 trafficking pathway had emerged from clinical genetics studies on patients with inborn errors of cobalamin metabolism, which led to their classification into nine complementation groups (cblA-G, cblJ and mut). Immodest in size, translocation of this portly and complex organometallic cofactor, complete…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.