Aliases for PFN1 Gene
External Ids for PFN1 Gene
Previous GeneCards Identifiers for PFN1 Gene
This gene encodes a member of the profilin family of small actin-binding proteins. The encoded protein plays an important role in actin dynamics by regulating actin polymerization in response to extracellular signals. Deletion of this gene is associated with Miller-Dieker syndrome, and the encoded protein may also play a role in Huntington disease. Multiple pseudogenes of this gene are located on chromosome 1. [provided by RefSeq, Jul 2012]
GeneCards Summary for PFN1 Gene
PFN1 (Profilin 1) is a Protein Coding gene. Diseases associated with PFN1 include Amyotrophic Lateral Sclerosis 18 and Amyotrophic Lateral Sclerosis 1. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Developmental Biology. Gene Ontology (GO) annotations related to this gene include actin binding. An important paralog of this gene is PFN2.
UniProtKB/Swiss-Prot for PFN1 Gene
Binds to actin and affects the structure of the cytoskeleton. At high concentrations, profilin prevents the polymerization of actin, whereas it enhances it at low concentrations. By binding to PIP2, it inhibits the formation of IP3 and DG. Inhibits androgen receptor (AR) and HTT aggregation and binding of G-actin is essential for its inhibition of AR.