MMACHC
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
RP11-291L19.3, cblC
Human MMACHC (25974), Mouse Mmachc (67096), Rat Mmachc (313520), Zebrafish mmachc (555267), chicken MMACHC (424597), domestic cat MMACHC (101090955), cow MMACHC (513433), dog MMACHC (482514), sheep MMACHC (101120707), domestic guinea pig Mmachc (100735601)
- Human(25974) Summary: 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]
- Mouse(67096) methylmalonic aciduria cblC type, with homocystinuria
- Rat(313520) methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
- Zebrafish(555267) methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
- chicken(424597) methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
- domestic cat(101090955) methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
- cow(513433) methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
- dog(482514) methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
- sheep(101120707) methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
- domestic guinea pig(100735601) methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
- naked mole-rat(101709397) methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
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Antibodies
Anti-MMACHC antibody produced in rabbit, Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution, ab2,
human
immunohistochemistry
western blot
western blot
Anti-MMACHC antibody produced in mouse, purified immunoglobulin, buffered aqueous solution,
human
western blot
Anti-MMACHC antibody produced in rabbit, Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution,
human
immunohistochemistry
western blot
western blot
Anti-MMACHC antibody produced in rabbit, Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution, ab1,
human
immunohistochemistry
western blot
western blot
Anti-MMACHC antibody produced in rabbit, purified immunoglobulin, buffered aqueous solution,
human
western blot