Gene Symbol | PFN1 |
Entrez Gene ID | 5216 |
Full Name | profilin 1 |
Synonyms | ALS18 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Amyotrophic lateral sclerosis 18, 614808 (3) |