ECHDC3 Background Information
ECHDC3 (enoyl coenzyme A hydratase domain containing 3), also known as PP1494 or PP8332, is a 303 amino acid mitochondrial protein that is expressed as two alternatively spliced isoforms and is encoded by a gene which maps to human chromosome 10. Spanning nearly 135 million base pairs, chromosome 10 makes up approximately 4.5% of the total DNA in cells and encodes nearly 1,200 genes. Several protein-coding genes, including those that encode for chemokines, cadherins, excision repair proteins, early growth response factors (Egrs) and fibroblast growth receptors (FGFRs), are located on chromosome 10. Defects in some of the genes that map to chromosome 10 are associated with Charcot-Marie-Tooth disease, Jackson-Weiss syndrome, Usher syndrome, nonsyndromatic deafness, Wolman’s syndrome, Cowden syndrome, multiple endocrine neoplasia type 2 and porphyria.
