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] (from
Mecham et al., Saint Louis, United States. In J Cell Biochem, 2012
These studies provide support for increased RANKL expression associated with MAGP1 deficiency and provide a link to altered TGF-beta signaling as a possible causative signaling pathway regulating RANKL expression in MAGP1-deficient osteoblasts.