HPSE2 Antibody – Rabbit Polyclonal

This gene encodes a heparanase enzyme. The encoded protein is a endoglycosidase that degrades heparin sulfate proteoglycans located on the extracellular matrix and cell surface. This protein may be involved in biological processes involving remodeling of the extracellular matrix including angiogenesis and tumor progression. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

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.

Protein type: EC 3.2.-.-; Glycan Metabolism - glycosaminoglycan degradation; Hydrolase

Chromosomal Location of Human Ortholog: 10q23-q24

Cellular Component: proteinaceous extracellular matrix; plasma membrane; intracellular

Molecular Function: heparan sulfate proteoglycan binding; heparanase activity

Biological Process: glycosaminoglycan catabolic process; glycosaminoglycan metabolic process; carbohydrate metabolic process; pathogenesis

Disease: Urofacial Syndrome 1