Identification of a new EGF-repeat-containing gene from human Xp22: A candidate for developmental disorders

Epidermal growth factor (EGF) repeat-containing proteins constitute an expa nding family of proteins involved in several cellular activities such as bl ood coagulation, fibrinolysis, cell adhesion, and neural and vertebrate dev elopment. Ey using a bioinformatic approach, we have identified a new membe r of this family named MAEG (MAM- and EGF-containing gene; HGMW-approved ge ne symbol and gene name). Sequence analysis indicates that MAEG encodes a s ecreted protein characterized by the presence of five EGF repeats, three of which display a Ca2+-binding consensus sequence. In addition, a MAM domain is also present at the C-terminus of the predicted protein product. The hu man and murine full-length cDNAs were identified and mapped to human Xp22 a nd to the mouse syntenic region. Northern analysis indicates that MAEG is e xpressed early during development. Taken together, these data render MAEG a candidate for human and murine developmental disorders. (C) 2000 Academic Press.