ECHDC2 is a 292 amino acid mitochondrial protein that exists as two isoforms which are produced by alternative splicing events. The gene encoding ECHDC2 maps to chromosome 1, which spans 260 million base pairs, contains over 3,000 genes and comprises nearly 8 % of the human genome. Chromosome 1 encodes a large number of disease-associated proteins, including Lamin A which, when expressed abnormally, can build up in the nucleus and cause nuclear blebs, a characteristic of the rare aging disease Hutchinson-Gilford progeria. Additionally, genes that are involved in familial adenomatous polyposis, Stickler syndrome, Parkinsons Disease, Gaucher disease, schizophrenia and Usher syndrome are all located on chromosome 1. Aberrations in chromosome 1 are found in a variety of cancers, including head and neck cancer, malignant melanoma and multiple myeloma.
Synonyms: 1300017C12Rik, 2610009M20Rik, D4Ertd765e, Enoyl Coenzyme A hydratase domain containing 2, FLJ10948, Enoyl-CoA hydratase domain-containing protein 2, RGD1308525, RP23-379K6.3, ECHD2_HUMAN.