HSPG2

AcronymDefinition
HSPG2Heparan Sulfate Proteoglycan of Basement Membrane
References in periodicals archive ?
2] Human genes: B3GALT6, beta-1,3-galactosyltransferase 6; CSF2RA, colony stimulating factor 2 receptor alpha subunit; DNMT1, DNA (cytosine-5-)-methyltransferase 1; HSPG2, heparan sulfate proteoglycan 2; ITCH, itchy E3 ubiquitin protein ligase; NEB, nebulin; PTPRC, protein tyrosine phosphatase, receptor type C; RYR1, ryanodine receptor 1; SEPNI, selenoprotein N, 1; 76X7, T-box 1; FADD, Fas associated via death domain; FGFR3, fibroblast growth factor receptor 3; ISPD, isoprenoid synthase domain containing; RFXAP, regulatory factor X associated protein; DNM2, dynamin 2; KBTBD13, kelch repeat and BTB domain containing 13; PTH1R, parathyroid hormone 1 receptor.
Nicole et al described 3 families with a mutation in the HSPG2 gene.
The causative gene for SJS, HSPG2 (1p36), encodes perlecan, a major component of the cellular matrix.