MMADHC

Methylmalonic aciduria and homocystinuria type D protein, mitochondrial also known as MMADHC is a protein that in humans is encoded by the MMADHC gene.{{cite journal |vauthors=Coelho D, Suormala T, Stucki M, Lerner-Ellis JP, Rosenblatt DS, Newbold RF, Baumgartner MR, Fowler B | title = Gene identification for the cblD defect of vitamin B₁₂ metabolism | journal = N. Engl. J. Med. | volume = 358 | issue = 14 | pages = 1454–64 |date=April 2008 | pmid = 18385497 | doi = 10.1056/NEJMoa072200 | s2cid = 15107040 | url = http://bura.brunel.ac.uk/handle/2438/2854| doi-access = free }}

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.{{cite web | title = Entrez Gene: MMADHC Methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria | url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=27249 }}

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.

References

External links

[https://www.ncbi.nlm.nih.gov/books/NBK1328/ GeneReviews/NCBI/NIH/UW entry on Disorders of Intracellular Cobalamin Metabolism]
[https://www.ebi.ac.uk/pdbe/pdbe-kb/proteins/Q9H3L0 PDBe-KB] provides an overview of all the structure information available in the PDB for Human Methylmalonic aciduria and homocystinuria type D protein, mitochondrial (MMADHC)

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MMADHC

Function

Clinical significance

References

External links

Further reading