PFN1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human PFN1 wild-type allele is located in the vicinity of 17p13.3 and is approximately 3 kb in length. This allele, which encodes profilin-1 protein, is involved in cytoskeleton regulation. Deletion of the gene may be associated with Miller-Dieker syndrome and mutation of the gene is associated with amyotrophic lateral sclerosis 18.

**Synonyms:** - ALS18 - Profilin 1 wt Allele