DISEASES

Disease-gene associations mined from literature

Literature associating ELAC2 and combined oxidative phosphorylation deficiency

ELAC2 [ENSP00000337445]

Zinc phosphodiesterase ELAC protein 2; Zinc phosphodiesterase, which displays mitochondrial tRNA 3'-processing endonuclease activity. Involved in tRNA maturation, by removing a 3'-trailer from precursor tRNA.

Synonyms:  ELAC2,  ELAC2p,  hELAC2,  B4DT15,  ELAC2-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM