DISEASES

Disease-gene associations mined from literature

JensenLab
SearchDownloadsAbout

Literature associating NDUFAF5 and ornithine carbamoyltransferase deficiency

NDUFAF5 [ENSP00000367346]

Arginine-hydroxylase NDUFAF5, mitochondrial; Arginine hydroxylase involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT- ND1) at early stages . Acts by mediating hydroxylation of 'Arg-111' of NDUFS7 . May also have methyltransferase activity (Probable).

Synonyms:  NDUFAF5,  NDUFAF5p,  hNDUFAF5,  B3KR61,  Q5TEU4 ...

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.

Currently maintained by Qingyao Huang at Swiss Institute of Bioinformatics, University of Zurich. Licensed under CC BY 4.0.