Involvement in diseaseDefects in MMACHC are the cause of methylmalonic aciduria and homocystinuria type cblC (MMACHC) [MIM:277400]. MMACHC is a disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood.
Sequence similaritiesBelongs to the MMACHC family.
ab96195, at 1/100 dilution, staining MMACHC in paraformaldehyde-fixed HeLa cells by Immunofluorescence. Lower image is merged with DNA probe.
References for Anti-MMACHC antibody (ab96195)
This product has been referenced in:
Fofou-Caillierez MB et al. Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia. Hum Mol GenetN/A:N/A (2013).
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