MMACHC

MMACHC

Methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
Available structures
PDB Ortholog search: RCSB
Identifiers
MMACHC Gene
Orthologs
SpeciesHumanMouse

Methylmalonic aciduria and homocystinuria type C protein also known as MMACHC is a protein that in humans is encoded by the MMACHC gene.[1]

Function

The C-terminal region of the product of the MMACHC gene is similar to TonB, a bacterial protein involved in energy transduction for cobalamin uptake.[1]

Clinical significance

Mutations are associated with methylmalonic acidemia.[1][2][3][4]

References

Further reading

External links

  • GeneReviews/NCBI/NIH/UW entry on Disorders of Intracellular Cobalamin Metabolism