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

First Author  Buchner G Year  2000
Journal  Genomics Volume  65
Issue  1 Pages  16-23
PubMed ID  10777661 Mgi Jnum  J:61762
Mgi Id  MGI:1355564 Doi  10.1006/geno.2000.6146
Citation  Buchner G, et al. (2000) Identification of a new EGF-repeat-containing gene from human Xp22: a candidate for developmental disorders. Genomics 65(1):16-23
abstractText  Epidermal growth factor (EGF) repeat-containing proteins constitute an expanding family of proteins involved in several cellular activities such as blood coagulation, fibrinolysis, cell adhesion, and neural and vertebrate development. By using a bioinformatic approach, we have identified a new member of this family named MAEG (MAM- and EGF-containing gene; HGMW-approved gene symbol and gene name). Sequence analysis indicates that MAEG encodes a secreted protein characterized by the presence of five EGF repeats, three of which display a Ca(2+)-binding consensus sequence. In addition, a MAM domain is also present at the C-terminus of the predicted protein product. The human and murine full-length cDNAs were identified and mapped to human Xp22 and to the mouse syntenic region. Northern analysis indicates that MAEG is expressed early during development. Taken together, these data render MAEG a candidate for human and murine developmental disorders. Copyright 2000 Academic Press.
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