Abstract by Austin Ellis

Personal Infomation

Presenter's Name

Austin Ellis



Degree Level




Abstract Infomation


Chemistry and Biochemistry

Faculty Advisor

Kenneth Christensen


The role of hyaline fibromatosis mutations in Capillary Morphogenesis Gene protein 2 on extracellular matrix interactions


Hyaline Fibromatosis Syndromes (HFS) are caused by point mutations in capillary morphogenesis gene protein 2 (CMG2). There are no treatments for these diseases. Several known mutations that cause HFS are in the extracellular von Willebrand A domain of CMG2. It has been observed that there is a buildup of matrix or hyaline materials responsible for the symptoms observed in the hyaline fibromatosis syndromes. One of the suggested potential physiological roles of CMG2 is to mediate recycling of extracellular matrix proteins or fragments. We have measured the CMG2 binding affinities of PA, Collagen I, Collagen VI, Collagen IV, and Laminin and many of these mutations substantially reduce CMG2 binding. Hence, reduced affinity of CMG2 for these proteins is a plausible mechanism whereby normal recycling and clearance of extracellular matrix proteins and fragments is reduced or blocked giving rise to the buildup or matrix and hyaline materials associated with HFS. In addition, this also suggests the physiological role of CMG2.