PRF1
Chr 10ARperforin 1
Also known as: HPLH2, P1, PFP
This gene encodes a protein with structural similarities to complement component C9 that is important in immunity. This protein forms membrane pores that allow the release of granzymes and subsequent cytolysis of target cells. Whether pore formation occurs in the plasma membrane of target cells or in an endosomal membrane inside target cells is subject to debate. Mutations in this gene are associated with a variety of human disease including diabetes, multiple sclerosis, lymphomas, autoimmune lymphoproliferative syndrome (ALPS), aplastic anemia, and familial hemophagocytic lymphohistiocytosis type 2 (FHL2), a rare and lethal autosomal recessive disorder of early childhood. [provided by RefSeq, Aug 2017]
Primary Disease Associations & Inheritance
Clinical highlights
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PRF1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Pain in Endometriosis And the Relation to Lifestyle
RECRUITINGA Phase I/IIa Study of GKL-006 Injection in Patients With Advanced Pancreatic Cancer
ACTIVE NOT RECRUITINGA Study of Apabetalone in Subjects With Long -COVID
RECRUITINGMolecular Biological and Moleculargenetic Monitoring of Therapy After Kidney Transplantation
RECRUITINGMetabolic and Functional Study of γδ T Cells in Critically Ill Patients
NOT YET RECRUITINGThe Norwegian Pancreas Transplantation (PTx) Study
ENROLLING BY INVITATIONA Phase II Study to Evaluate the Efficacy and Safety of Teclistamab in Combination With Daratumumab (Tec-Dara) in Newly Diagnosed Multiple Myeloma With Concurrent Light Chain Amyloidosis (MM+AL).
RECRUITINGEarly Life Malnutrition, Environmental Enteric Dysfunction and Microbiome Trajectories
RECRUITINGNeoantigen Peptide Vaccine Plus Pembrolizumab in Renal Cell Carcinoma
NOT YET RECRUITINGTrial for Treatment of High Risk BC With Two Sequences of Neoadjuvant Chemotherapy With Pembrolizumab
NOT YET RECRUITINGStudy of an Innovative Therapy Using CAR-T Cells Targeting IL-1RAP in Patients With High-Risk Myelodysplastic Syndromes (MDS
NOT YET RECRUITINGExternal Resources
Links to major genomics databases and tools