PFN1, Official Symbol PFN1provided by HGNC Official Full Name profilin 1provided by HGNC Primary source HGNC:HGNC:8881 See related Ensembl:ENSG00000108518 MIM:176610; AllianceGenome:HGNC:8881 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ALS18 Summary 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] Expression Ubiquitous expression in appendix (RPKM 221.4), lymph node (RPKM 209.6) and 24 other tissues See more Orthologs mouse all