Top Qs
Timeline
Chat
Perspective

MMADHC

Protein-coding gene in humans From Wikipedia, the free encyclopedia

MMADHC
Remove ads

Methylmalonic aciduria and homocystinuria type D protein, mitochondrial also known as MMADHC is a protein that in humans is encoded by the MMADHC gene.[5]

Quick Facts Available structures, PDB ...
Remove ads

Function

This gene encodes a protein localized in cytosol and mitochondria that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans.[6]

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.[5]

References

Further reading

Loading related searches...

Wikiwand - on

Seamless Wikipedia browsing. On steroids.

Remove ads