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HPSE2 Binds heparin and heparan sulfate with high affinity, but lacks heparanase activity. Inhibits HPSE, possibly by competing for its substrates (in vitro). Defects in HPSE2 are the cause of urofacial syndrome (UFS). A rare autosomal recessive characterized by facial grimacing when attempting to smile and failure of the urinary bladder to void completely despite a lack of anatomical bladder outflow obstruction or overt neurological damage. Affected individuals often have reflux of infected urine from the bladder to the upper renal tract, with a risk of kidney damage and renal failure. Belongs to the glycosyl hydrolase 79 family. 4 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: EC 3.2.-.-; Glycan Metabolism - glycosaminoglycan degradation; Hydrolase
Chromosomal Location of Human Ortholog: 10q24.2
Cellular Component: intracellular; plasma membrane; proteinaceous extracellular matrix
Molecular Function: heparan sulfate proteoglycan binding; heparanase activity
Biological Process: extracellular matrix organization; glycosaminoglycan catabolic process; positive regulation of cell proliferation
Disease: Urofacial Syndrome 1
Reference #:  Q8WWQ2 (UniProtKB)
Alt. Names/Synonyms: FLJ11684; FLJ44022; heparanase 2; heparanase 3; Heparanase-2; heparanase-like protein; HPA2; HPR2; HPSE2; MGC133234
Gene Symbols: HPSE2
Molecular weight: 66,596 Da
Basal Isoelectric point: 9.95  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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