Modular Proteoglycan Perlecan/HSPG2: Mutations, Phenotypes, and Functions.

ABSTRACT: Heparan sulfate proteoglycan 2 (HSPG2) is an essential, highly conserved gene whose expression influences many developmental processes including the formation of the heart and brain. The gene is widely expressed throughout the musculoskeletal system including cartilage, bone marrow and skeletal muscle. The HSPG2 gene product, perlecan is a multifunctional proteoglycan that preserves the integrity of extracellular matrices, patrols tissue borders, and controls various signaling pathways affecting cellular phenotype. Given HSPG2's expression pattern and its role in so many fundamental processes, it is not surprising that relatively few gene mutations have been identified in viable organisms. Mutations to the perlecan gene are rare, with effects ranging from a relatively mild condition to a m

SUBMITTER: Martinez JR 

PROVIDER: S-EPMC6266596 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature