PRF1
Primary Info
Mutation
Mouse studies
DNA sequencing


mRNA IDs Primary Information
NM_005041.4 Gene Symbol PRF1
Protein Name Perforin 1 (pore forming protein)
Alternate Names FLH2, HPLH2, MGC65093, P1, PFP
Gene Locus 10q22

External links
IDR HPRD OMIM Entrez Gene NetPath Reactome PDB HGNC Ensembl Swiss-Prot RefDIC
105 01362 170280 5551 NetPath_M5551 -
9360 ENSG00000180644 P14222 PRF1

Disease name Characteristic / Associated features Category inheritance type
Familial hemophagocytic lymphohistiocytosis, type II Severe inflammation; High fever; Irritable Mood; Generalized aches and pains; Edema; Hepatosplenomegaly; Thrombocytopenia; Anemia; Hemophagocytosis; Splenomegaly; Exanthema; Lymphadenopathy; Bulging fontanelle; Neck stiffness; Muscle hypotonia; Hypertonia; Febrile Convulsions; Cranial nerve palsies; Ataxia; Hemiplegia; Quadriplegia; Blind vision; Unconscious state; Decreased NK cell activity; Decreased CTL activity; Neutrophilia Diseases of Immune Dysregulation Autosomal recessive