Gene: PRF1
Alternate names for this Gene: HPLH2|P1|PFP
Gene Summary: 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.
Gene is located in Chromosome: 10
Location in Chromosome : 10q22.1
Description of this Gene: perforin 1
Type of Gene: protein-coding
rs104894181 in
PRF1 gene and
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
PMID 11179007 2001 Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis.
PMID 10583959 1999 Perforin gene defects in familial hemophagocytic lymphohistiocytosis.
PMID 21881043 2011 Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH.
PMID 24916509 2014 Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis.
PMID 25937001 2015 Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings.
PMID 25845254 2017 Primary lymphoma of the brain in a young man whose brother died of hemophagocytic lymphohistiocytosis: case report.
PMID 14757862 2004 Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis.
PMID 23255033 2013 Familial haemophagocytic lymphohistiocytosis in twin infants.
PMID 22437823 2012 Analyses of the PRF1 gene in individuals with hemophagocytic lymphohystiocytosis reveal the common haplotype R54C/A91V in Colombian unrelated families associated with late onset disease.
PMID 16860143 2006 Patients of African ancestry with hemophagocytic lymphohistiocytosis share a common haplotype of PRF1 with a 50delT mutation.
PMID 17873118 2008 Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations.
PMID 16278825 2006 Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.
PMID 16374518 2006 Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis.
PMID 2618478 1989 [Ruptured aneurysm of the abdominal aorta. Successful treatment of potentially fatal postoperative complications].
PMID 21959744 2011 Familial hemophagocytic lymphohistiocytosis in a pediatric patient diagnosed by brain magnetic resonance imaging.
PMID 21152410 2010 Subtypes of familial hemophagocytic lymphohistiocytosis in Japan based on genetic and functional analyses of cytotoxic T lymphocytes.
PMID 15632205 2005 Genetic subtypes of familial hemophagocytic lymphohistiocytosis: correlations with clinical features and cytotoxic T lymphocyte/natural killer cell functions.
PMID 17266056 2007 Late-onset cases of familial hemophagocytic lymphohistiocytosis with missense perforin gene mutations.
PMID 26903364 2016 Previously undiagnosed fatal familial haemophagocytic lymphohistiocytosis in a 24-year-old woman.
PMID 15728124 2005 A proportion of patients with lymphoma may harbor mutations of the perforin gene.
PMID 25297583 2014 [Analysis of clinical phenotype and genetic mutations of a pedigree of familial hemophagocytic lymphohistiocytosis].
PMID 18074390 2008 A teenage boy with late onset hemophagocytic lymphohistiocytosis with predominant neurologic disease and perforin deficiency.
PMID 25233452 2014 Genetic features of late onset primary hemophagocytic lymphohistiocytosis in adolescence or adulthood.
PMID 19487666 2009 Temperature sensitivity of human perforin mutants unmasks subtotal loss of cytotoxicity, delayed FHL, and a predisposition to cancer.
PMID 20092789 2009 Mutations in the perforin gene in children with hemophagocytic lymphohistiocytosis.
PMID 27271812 2017 Predominant Neurologic Manifestations Seen in a Patient With a Biallelic Perforin1 Mutation (PRF1; p.R225W).
PMID 26684649 2015 Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.
PMID 21234777 2011 Hemophagocytic lymphohistiocytosis with neurological presentation: MRI findings and a nearly miss diagnosis.
PMID 11565555 2001 Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis.
PMID 15365097 2004 The functional basis for hemophagocytic lymphohistiocytosis in a patient with co-inherited missense mutations in the perforin (PFN1) gene.
PMID 23443029 2013 Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation.
rs147462227 in
PRF1 gene and
Multiple congenital anomalies
PMID 15755897 2005 A functional analysis of the putative polymorphisms A91V and N252S and 22 missense perforin mutations associated with familial hemophagocytic lymphohistiocytosis.
PMID 18710388 2008 Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis.
PMID 26605207 2015 Hemophagocytic Lymphohistiocytosis: A Series of Five Clinical Cases in Adult Patients at a Single Institution with a Review of the Literature.
PMID 16937360 2007 HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis.
PMID 21303357 2011 Familial haemophagocytic lymphohistiocytosis: advances in the genetic basis, diagnosis and management.
PMID 23690113 2013 Hemophagocytic lymphohistiocytosis: an update on diagnosis and pathogenesis.
PMID 17266056 2007 Late-onset cases of familial hemophagocytic lymphohistiocytosis with missense perforin gene mutations.
PMID 23443029 2013 Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation.