Profilins (Pfns) are small, ubiquitous, 12-16 kDa actin-binding proteins. Mammals encode four different Pfn proteins, Profilin-1 (Pfn1) being the major isoform which appears in nearly all tissues. In the nervous system, Pfn1 might play a role in Huntington’s disease; and mutations in the PFN1 gene link to familial amyotrophic lateral sclerosis. Pfn-1 is a 140-amino-acid protein with two distinct binding sites, one for actin and one for poly-L-proline (PLP). The best-described function of PFN1 is to catalyze actin elongation and polymerization. Innoprot has developed a green fluorescent Profilin-1 Cell line for cell-based assays applications.
Amyotrophic lateral sclerosis (ALS) is a progressive and fatal degenerative disorder of motor neurons. Eight DNA mutations in the PFN1 gene encoding the PFN1 protein are associated with human amyotrophic lateral sclerosis; but there is no any description about mechanisms by which a single amino acid change in human PFN1 cause the degeneration of motor neurons. So, it is necessary to identify the mechanism by which these mutations cause disease and to expedite the development of effective treatments for people with ALS.