Ethylmalonic Encephalopathy Protein 1 (ETHE1)

The ETHE1 protein is a phylogenetically conserved protein that shares high homology with GLO2. The protein contains an N-terminal sequence of 24 amino acids whose residues show similarity to those of mitochondrial leader peptides. The ETHE1 protein is targeted to mitochondria and internalized into the matrix after energy-dependent cleavage of the leader peptide. ETHE1 gene is located on 19q13 by linkage mapping. Because of the clinical and biochemical features of EE, they assumed that the responsible protein is likely to be involved in mitochondrial metabolism. After excluding 2 such known genes that map to 19q13, they selected candidate genes that predicted proteins of unknown function, which may potentially be involved in mitochondria.