Progranulin (PGRN) is a cysteine-rich protein with 593-amino acids and has a molecular weight of ~68.5kDa. The PGRN gene, with one non-coding exon and 12 coding exons spanning 8kb of genomic DNA, is mapped to human chromosome 17q21. The encoded protein is characterized by seven granulin-like domains, which include 7.5 highly conserved tandem repeats of a rare 12 cysteinyl residues. PGRN is predominantly expressed in rapidly cycling epithelial cells, leukocytes, neurons, and chondrocytes.
Progranulin (PGRN) is a widely expressed pluripotent growth factor, which plays a crucial role in various processes such as development, cell cycle progression, cell motility, wound repair and inflammation. Additionally, It is also implicated in early embryogenesis, host defense, cartilage development and degradation. Mutations in the PGRN gene were found in cases of frontotemporal degeneration (FTLD). PGRN expression is associated with the development of various type of cancer such as breast cancer, ovarian carcinoma, and multiple myeloma. Overexpression of PGRN has been observed in neurodegenerative diseases such as microglia of Creutzfeldt-Jacob patients and in spinal cord of amyotrophic lateral sclerosis (ALS) patients.
