Aliases for EFEMP2 Gene
External Ids for EFEMP2 Gene
Previous GeneCards Identifiers for EFEMP2 Gene
A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, activation of complement and determination of cell fate during development. The protein encoded by this gene contains four EGF2 domains and six calcium-binding EGF2 domains. This gene is necessary for elastic fiber formation and connective tissue development. Defects in this gene are cause of an autosomal recessive cutis laxa syndrome. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011]
GeneCards Summary for EFEMP2 Gene
EFEMP2 (EGF Containing Fibulin Extracellular Matrix Protein 2) is a Protein Coding gene. Diseases associated with EFEMP2 include Cutis Laxa, Autosomal Recessive, Type Ib and Autosomal Recessive Cutis Laxa Type I. Among its related pathways are Integrin Pathway and Degradation of the extracellular matrix. Gene Ontology (GO) annotations related to this gene include calcium ion binding and extracellular matrix structural constituent. An important paralog of this gene is EFEMP1.