Ethylmalonic encephalopathy protein 1 (ETHE1 protein, hepatoma subtracted clone one protein, ETHE1, HSCO)

Function

• metabolic homeostasis in mitochondria (putative)
• nuclear-cytoplasmic shuttling protein
  • binds transcription factor RELA/NFKB3 in the nucleus & exports it to the cytoplasm
• suppresses p53-induced apoptosis by preventing nuclear localization of RELA

Structure

• belongs to the glyoxalase 2 family
• binds 2 Zn+2 per subunit

Compartment

cytoplasm, nucleus, mitochondrial matrix

Expression

ubiquitously expressed

Pathology

• defects in ETHE1 are a cause of ethylmalonic encephalopathy

More general terms

• mitochondrial protein
• metalloprotein
• nuclear protein

Database

• OMIM: https://mirror.omim.org/entry/602473
• OMIM: https://mirror.omim.org/entry/608451
• UniProt: http://www.uniprot.org/uniprot/O95571.html