DISEASES

Disease-gene associations mined from literature

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Literature associating MMADHC and methylmalonic acidemia

MMADHC [ENSP00000389060]

Methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria; Involved in cobalamin metabolism. Plays a role in regulating the biosynthesis of two coenzymes, methylcobalamin and adenosylcobalamin. Plays a role in regulating the proportion of methylcobalamin and adenosylcobalamin. Promotes oxidation of cob(II)alamin bound to MMACHC.

Synonyms:  MMADHC,  F8WEC0,  Q9H3L0,  C2orf25,  CL25022 ...

Linkouts:  STRING  Pharos  UniProt

The disease-gene associations are derived from automatic text mining of the biomedical literature, manually curated database annotations, cancer mutation data, and genome-wide association studies. The confidence of each association is signified by stars, where ★★★★★ is the highest confidence and ★☆☆☆☆ is the lowest.

Developed by Sune Frankild, Alexander Junge, Albert Pallejà, Dhouha Grissa, Kalliopi Tsafou, and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.