title: Identification of a new EGF-repeat-containing gene from human Xp22: a candidate for developmental disorders.
abstract: 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.
authors.affiliation: Telethon Institute of Genetics and Medicine (TIGEM), San Raffaele Biomedical Science Park, Milan, 20132, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Buchner
authors.forename: U
authors.initials: U
authors.lastname: Orfanelli
authors.forename: N
authors.initials: N
authors.lastname: Quaderi
authors.forename: M T
authors.initials: MT
authors.lastname: Bassi
authors.forename: G
authors.initials: G
authors.lastname: Andolfi
authors.forename: A
authors.initials: A
authors.lastname: Ballabio
authors.forename: B
authors.initials: B
authors.lastname: Franco
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D015152:Blotting, Northern; D002135:Calcium-Binding Proteins; D015815:Cell Adhesion Molecules; D002874:Chromosome Mapping; D004247:DNA / Q000737:chemistry / Q000235:genetics; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics / Q000302:isolation & purification; D004815:Epidermal Growth Factor / Q000235:genetics*; D005091:Exons; D005333:Fetus / Q000378:metabolism; D018507:Gene Expression Regulation, Developmental; D005796:Genes / Q000235:genetics; D006023:Glycoproteins; D006130:Growth Disorders / Q000235:genetics*; D006133:Growth Substances; D006801:Humans; D007438:Introns; D008562:Membrane Glycoproteins; D051379:Mice; D008969:Molecular Sequence Data; D009363:Neoplasm Proteins; D010455:Peptides; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D017386:Sequence Homology, Amino Acid; D014960:X Chromosome / Q000235:genetics*
chemical_list: D002135:Calcium-Binding Proteins; D015815:Cell Adhesion Molecules; D018076:DNA, Complementary; C403518:EGFL6 protein, human; C485745:Egfl6 protein, mouse; D006023:Glycoproteins; D006133:Growth Substances; D008562:Membrane Glycoproteins; D009363:Neoplasm Proteins; D010455:Peptides; D004815:Epidermal Growth Factor; D004247:DNA