Organization and chromosomal localization of the human ECEL1 (XCE) gene encoding a zinc metallopeptidase involved in the nervous control of respiration

ECEL1 (endothelin-converting enzyme-like 1; previously known as XCE) is a p utative zinc metalloprotease that was identified recently on the basis of i ts strong identity with endothelin-converting enzyme. Although the physiolo gical function of ECEL1 is unknown, inactivation of the corresponding gene in mice points to a critical role of this protein in the nervous control of respiration. In the present study we have characterized the human ECEL1 ge ne. It was located to region q36-q37 of chromosome 2 and shown to be compos ed of 18 exons spanning approx. 8 kb. The structure of the ECEL1 gene displ ays some striking similarities with those of genes of related metallopeptid ases, supporting the hypothesis that they are all derived from a common anc estor. A short phylogenetic study describing the relationship between the v arious members of this gene family is also presented.