SERPINB7 Gene

The SERPINB7 gene (SERPINB7 is the acronym for Serpin Family B Member 7 or Serpin peptidase inhibitor, clade B (ovalbumin), member 7) is a protein-coding gene located on chromosome 18q21.33. The SERPINB7 gene encodes members of the serine protease inhibitor superfamily. These act as protease inhibitors. The following activities are attributed to the SERPINB7 endopeptidase encoded by this gene:

• negative regulation of endopeptidase activity.
• positive regulation of the collagen biosynthesis process
• positive regulation of glomerular mesangial cell proliferation
• positive regulation of platelet-derived growth factor production
• positive regulation of transforming growth factor beta1 production

Diseases associated with SERPINB7 include:

• Nagashima-type palmoplantar keratosis with mutation in SERPIN B7 gene (inflammatory progressive and transgressive palmoplantar keratosis). Nagashima-type palmoplantar keratosis (NPPK) is the most common palmoplantar keratosis (PPK) in East Asia (Huang C et al. 2021). Clinical manifestations of NPPK include well-demarcated erythema, mild to moderate hyperkeratosis on the entire palm and sole of the foot with transgressions extending to the dorsal surfaces of the hands and feet, inner wrists, ankles, and Achilles tendon areas.

1. Huang C et al (2021) Nagashima-type palmoplantar keratosis: clinical characteristics, genetic characterization, and clinical management. Biomed Res Int 2021:8841994.
2. Li CX et al. (2016) A sporadic case of Nagashima-type palmoplantar keratosis caused by gene mutation in SERPINB7. Clin Exp Dermatol 41:811-813.