Enoyl Coenzyme A Hydratase Domain Containing Protein 1 (ECHDC1)

Gold et al. (2008) stated that the ECHDC1 protein shares characteristics with proteins involved in mitochondrial fatty acid oxidation.

High risk, cancer affected Jewish Ashkenazi women, were genotyped for harboring germline mutations in the coding exons of both the RNF146 and ECHDC1 genes, using direct sequencing. An intronic sequence alteration was detected in 4/105 genotyped patients in intron 3 of the ECHDC1 gene. No other sequence alterations were detected in the genomic regions analyzed of the RNF146 and ECHDC1 genes in any of the study participants. Mutations in the coding regions of the RNF146 and ECHDC1 genes do not contribute to the burden of inherited predisposition of breast cancer in Ashkenazi high risk women.