Perforin

IgG

Rat

Cytoplasmic granules

0. 1% Sodium Azide; Constituents: PBS

Cytoplasmic granules Perforin (pore-forming protein) is originally cloned from mouse cytotoxic T-lymphocyte(CTL) (ref 1 2). It is a 555-amino acid protein with a 21-amino acid signal peptide. Perforin is a cytolytic mediator produced by killer lymphocytes and is stored in and released by cytoplasmic granules. Perforin is involved in the killing mediated by CTL which represents an important mechanism in the immune defense against tumors and virus infections (ref 3 4).

Cytoplasmic granule membrane; Multi-pass membrane protein. Note=Cytoplasmic granules of cytolytic T-lymphocytes.

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.

Contains 1 C2 domain.

Contains 1 MACPF domain.