HSPG2

Pcn; Plc; per; HSPG; Perlecan (Heparan Sulfate Proteoglycan 2)

Enables protease binding activity. Involved in receptor-mediated endocytosis. Acts upstream of or within several processes, including cardiac muscle tissue development; extracellular matrix organization; and skeletal system development. Located in basement membrane. Is expressed in several structures, including alimentary system; cardiovascular system; early conceptus; genitourinary system; and nervous system. Used to study Schwartz-Jampel syndrome 1; Silverman-Handmaker type dyssegmental dysplasia; dextro-looped transposition of the great arteries; and thanatophoric dysplasia. Human ortholog(s) of this gene implicated in Schwartz-Jampel syndrome 1; Silverman-Handmaker type dyssegmental dysplasia; and osteochondrodysplasia. Orthologous to human HSPG2 (heparan sulfate proteoglycan 2).