DISEASES

Disease-gene associations mined from literature

Literature associating HSPG2 and Walker-Warburg syndrome

HSPG2 [ENSP00000363827]

Basement membrane-specific heparan sulfate proteoglycan core protein; Integral component of basement membranes. Component of the glomerular basement membrane (GBM), responsible for the fixed negative electrostatic membrane charge, and which provides a barrier which is both size- and charge-selective. It serves as an attachment substrate for cells. Plays essential roles in vascularization. Critical for normal heart development and for regulating the vascular response to injury. Also required for avascular cartilage development; I-set domain containing

Synonyms:  HSPG2,  HSPG2p,  hHSPG2,  B6EU51,  P98160 ...

Linkouts:  STRING  Pharos  UniProt  OMIM