PRM3
PRM3 Gene: A Comprehensive Overview
Description:
The PRM3 gene, also known as the protease M3 gene, encodes a serine protease enzyme involved in a variety of biological processes, including immune regulation, tissue remodeling, and inflammation. It is located on chromosome 21 and is expressed in various cell types, including neutrophils, monocytes, and macrophages.
Associated Diseases:
Mutations in the PRM3 gene are associated with a rare genetic disorder known as Papillon-Lefèvre syndrome (PLS). PLS is characterized by severe periodontitis and palmoplantar keratoderma, a thickening of the skin on the palms and soles. Other conditions that have been linked to PRM3 mutations include:
- Neutrophilic eccrine eccrine hidradenitis (NEEH)
- Subcorneal pustular dermatosis (SPD)
- Pyoderma gangrenosum
- Inflammatory bowel disease
Did you Know ?
Approximately 1 in 1 million people worldwide are affected by Papillon-Lefèvre syndrome, making it an extremely rare disorder.
