Aliases for MFAP2 Gene
External Ids for MFAP2 Gene
Previous GeneCards Identifiers for MFAP2 Gene
Microfibrillar-associated protein 2 is a major antigen of elastin-associated microfibrils and a candidate for involvement in the etiology of inherited connective tissue diseases. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
GeneCards Summary for MFAP2 Gene
MFAP2 (Microfibril Associated Protein 2) is a Protein Coding gene. Diseases associated with MFAP2 include Costello Syndrome and Weill-Marchesani Syndrome. Among its related pathways are Degradation of the extracellular matrix and Canonical and Non-canonical Notch signaling. Gene Ontology (GO) annotations related to this gene include fibronectin binding and fibrinogen binding. An important paralog of this gene is MFAP5.
UniProtKB/Swiss-Prot Summary for MFAP2 Gene
Component of the elastin-associated microfibrils.