HRPT2
HPSE2[edit | edit source]
HPSE2 (Heparanase 2) is a protein encoded by the HPSE2 gene in humans. It is a member of the heparanase family, which is involved in the degradation of heparan sulfate, a key component of the extracellular matrix. Unlike its homolog, heparanase, HPSE2 does not exhibit heparan sulfate degrading activity but is thought to play a role in the regulation of heparanase activity and in the maintenance of the extracellular matrix.
Structure[edit | edit source]
The HPSE2 protein is composed of several domains that are characteristic of the heparanase family. It contains a signal peptide, a propeptide region, and a catalytic domain. However, the catalytic domain of HPSE2 lacks the critical amino acids necessary for enzymatic activity, which explains its inability to degrade heparan sulfate.
Function[edit | edit source]
HPSE2 is believed to function as a regulatory protein that modulates the activity of heparanase by acting as a competitive inhibitor. It may bind to heparan sulfate chains, preventing their degradation by active heparanase. This regulatory role is crucial in maintaining the integrity of the extracellular matrix and in controlling cell migration and invasion.
Clinical Significance[edit | edit source]
Mutations in the HPSE2 gene have been associated with urofacial syndrome, a rare genetic disorder characterized by urinary tract and facial abnormalities. The exact mechanism by which HPSE2 mutations lead to this syndrome is not fully understood, but it is thought to involve disruptions in extracellular matrix composition and signaling pathways.
Research[edit | edit source]
Ongoing research is focused on understanding the precise biological functions of HPSE2 and its interactions with other components of the extracellular matrix. Studies are also investigating the potential role of HPSE2 in cancer, as alterations in extracellular matrix dynamics are a hallmark of tumor progression.
Also see[edit | edit source]
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