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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.
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| Protein type: EC 3.2.-.-; Glycan Metabolism - glycosaminoglycan degradation; Hydrolase |
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Cellular Component: proteinaceous extracellular matrix; plasma membrane; intracellular
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Molecular Function: heparan sulfate proteoglycan binding; cation binding; heparanase activity
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Biological Process: glycosaminoglycan catabolic process; glycosaminoglycan metabolic process; carbohydrate metabolic process
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Reference #:
Q8WWQ2 (UniProtKB)
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| Alt. Names/Synonyms: FLJ11684; FLJ44022; heparanase 2; heparanase 3; Heparanase-2; heparanase-like protein; HPA2; HPR2; HPSE2; MGC133234 |
| Gene Symbols: HPSE2 |
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Molecular weight: 66,596 Da
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Basal Isoelectric point: 9.95
Predict pI for various phosphorylation states
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