MMADHC

MMADHC

Methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
Identifiers
MMADHC Gene
Orthologs
SpeciesHumanMouse

Methylmalonic aciduria and homocystinuria type D protein, mitochondrial also known as MMADHC is a protein that in humans is encoded by the MMADHC gene.[1]

Function

This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans.[2]

Clinical significance

Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin.[1]

References

External links

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

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.