SERPINB13
SERPINB13 is a gene that encodes a member of the serpin family of serine protease inhibitors. The gene is located on the long arm of chromosome 18 (18q21.3). The protein encoded by this gene is known to inhibit cathepsin L and is thought to play a role in the regulation of cellular proliferation and differentiation.
Function
The SERPINB13 gene encodes a protein that belongs to the serpin family, a group of proteins that function as serine protease inhibitors. These proteins play a crucial role in controlling the activity of proteases in various biological processes, including coagulation, inflammation, and cell death.
The protein encoded by the SERPINB13 gene is known to inhibit cathepsin L, a lysosomal enzyme involved in protein degradation. By inhibiting cathepsin L, SERPINB13 may help regulate cellular proliferation and differentiation.
Clinical Significance
Alterations in the SERPINB13 gene have been associated with several medical conditions. For instance, mutations in this gene have been linked to head and neck squamous cell carcinoma (HNSCC), suggesting a potential role for this gene in cancer development and progression.
In addition, research has indicated that SERPINB13 may be involved in the pathogenesis of psoriasis, a chronic skin condition characterized by red, scaly patches of skin.
See Also
References
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Contributors: Prab R. Tumpati, MD