HSPG2Heparan Sulfate Proteoglycan of Basement Membrane
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[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.
Up-regulated genes included heparan sulfate proteoglycan 2 (HSPG2), hyaluronoglucosaminidase 1 (HYAL1) and interleukin 7 (IL-7), and down-regulated genes included interleukin 6 (1L-6), and C-reactive protein (CRP), as well as cathepsin G (CTSG), tachykinin receptor 1 (TACR1), chemokine (C-X3-C motif) ligand 1(CX3CL1), frizzled homolog 1 (FZD1), and insulin-like growth factor 2 (IGF2).
Genes up-regulated in the AR treatment group included HSPG2 and HYAL1, proteins involved in extracellular matrix generation and remodeling (Xu et al.
SJS types IA and IB derive from mutations of the same gene, the HSPG2 gene, which codes for perlecan, a heparin sulfate proteoglycan.
The gene encoding for perlecan is called HSPG2. Nicole et al described 3 families with a mutation in the HSPG2 gene.