HPSE2

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.

Full Name

heparanase 2

Function

Binds heparin and heparan sulfate with high affinity, but lacks heparanase activity. Inhibits HPSE, possibly by competing for its substrates (in vitro).

Biological Process

Extracellular matrix organization Source: Ensembl
Glycosaminoglycan catabolic process Source: Reactome
Positive regulation of cell population proliferation Source: Ensembl

Cellular Location

Extracellular matrix

Involvement in disease

Urofacial syndrome 1 (UFS1):
A rare autosomal recessive disorder 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.