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PRF1

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.
Protein class

Cancer-related genes, Disease related genes, Human disease related genes, Potential drug targets, Transporters

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (NK-cells, dendritic cells, T-cells)

Immune cell specificity

Group enriched (gdT-cell, NK-cell, MAIT T-cell, memory CD8 T-cell, naive CD8 T-cell)

Cell line specificity

Cell line enriched (HDLM-2)

Interaction

Monomer, as soluble protein (PubMed:20889983, 21037563). Homooligomer. Oligomerization is required for pore formation (PubMed:20889983, 21037563).

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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