SERPINB7

SERPINB7 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 (18q21.33). The protein encoded by this gene is a member of the ovalbumin subfamily of serpins. The encoded protein is known to inhibit the activity of cathepsin K, and mutations in this gene have been associated with a form of palmoplantar keratoderma, Nagashima type.

Function

SERPINB7 is a member of the serpin superfamily of serine protease inhibitors. Serpins are a group of proteins with similar structures that were first identified as a set of proteins able to inhibit proteases. The name 'serpin' is an acronym for 'serine protease inhibitor'. Many serpins perform functions outside the realm of protease inhibition, including roles in blood coagulation, angiogenesis, immune response, and tumor suppression.

Clinical significance

Mutations in the SERPINB7 gene have been associated with a form of palmoplantar keratoderma, Nagashima type. This is a skin disorder characterized by abnormal thickening of the skin on the palms and soles. The condition is caused by a mutation in the SERPINB7 gene, which results in a non-functional protein. This leads to an increase in the activity of cathepsin K, a protease that breaks down proteins in the skin, leading to the symptoms of the disorder.

Research

Research into the SERPINB7 gene and its associated protein is ongoing, with studies focusing on its role in skin disorders and potential applications in the treatment of these conditions. Further research is needed to fully understand the function of this gene and its potential therapeutic applications.

See also

• Serpin
• Palmoplantar keratoderma
• Cathepsin K
• Chromosome 18

References

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