Synthesized peptide derived from human Perforin AA range:1-100

This antibody detects endogenous levels of Perforin

PRF1

Perforin-1

Cytolysin ;
FLH2 ;
HPLH2 ;
Lymphocyte pore-forming protein ;
P1 ;
PERF_HUMAN ;
perforin 1 ;
pore forming protein ;
Perforin 1 ;
Perforin-1 ;
PFP ;
PGFL ;
PIGF ;
PIGF-2 ;
PLGF ;
Pore forming protein ;
prf1 ;
SHGC-10760

The protein encoded by this gene has structural and functional similarities to complement component 9 (C9) . Like C9 , this protein creates transmembrane tubules and is capable of lysing non-specifically a variety of target cells. This protein is one of the main cytolytic proteins of cytolytic granules , and it is known to be a key effector molecule for T-cell- and natural killer-cell-mediated cytolysis. Defects in this gene cause familial hemophagocytic lymphohistiocytosis type 2 (HPLH2) , a rare and lethal autosomal recessive disorder of early childhood. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq , Jul 2008] ,

Disease:Defects in PRF1 are the cause of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) [MIM:603553]; also known as HPLH2. Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous , rare autosomal recessive disorder. It is characterized by immune dysregulation with hypercytokinemia and defective natural killer cell function. The clinical features of the disease include fever , hepatosplenomegaly , cytopenia , hypertriglyceridemia , hypofibrinogenemia , and neurological abnormalities ranging from irritability and hypotonia to seizures , cranial nerve deficits , and ataxia. Hemophagocytosis is a prominent feature of the disease , and a non-malignant infiltration of macrophages and activated T lymphocytes in lymph nodes , spleen , and other organs is also found. ,Function:In the presence of calcium , perforin polymerizes into transmembrane tubules and is capable of lysing non-specifically a variety of target cells. ,induction:Repressed by contact with target cells. ,online information:Perforin entry ,online information:PRF1 mutation db ,similarity:Belongs to the complement C6/C7/C8/C9 family. ,similarity:Contains 1 C2 domain. ,similarity:Contains 1 EGF-like domain. ,similarity:Contains 1 MACPF domain. ,subcellular location:Cytoplasmic granules of cytolytic T-lymphocytes. ,

Cytoplasmic , Membranous

>>Apoptosis ;
>>Natural killer cell mediated cytotoxicity ;
>>Type I diabetes mellitus ;
>>Autoimmune thyroid disease ;
>>Allograft rejection ;
>>Graft-versus-host disease ;
>>Viral myocarditis