PRF1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human PRF1 wild-type allele is located in the vicinity of 10q22 and is approximately 5 kb in length. This allele, which encodes perforin-1 protein, plays a role in lymphocyte-mediated cytolysis. Mutation of the gene is associated with T-cell lymphoblastic lymphoma, aplastic anemia, hemophagocytic lymphohistiocytosis familial type 2, autoimmune lymphoproliferative syndrome and other lymphoproliferative disorders, including various forms of lymphoma.

**Synonyms:** - FLH2 - HPLH2 - MGC65093 - P1 - PFN1 - PFP - Perforin 1 (Pore Forming Protein) Gene - Perforin 1 (Preforming Protein) Gene - Perforin 1 wt Allele - RP11-710A11.3