QuickView for PFP (gene)

Gene Symbol:

PRF1 Homo sapiens

Full name:

perforin 1

Synonyms:

HPLH2, P1, PFP, perforin-1, cytolysin, lymphocyte pore-forming protein, perforin 1 (pore forming protein)

Genomic Location:

Chr 10: 72027110-72032537

Description:

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 sub...

View Full Description

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.

View Less

Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Bos taurus ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TGGAAA_NFAT_Q4_01 ,  TGANTCA_AP1_C ,  RYTTCCTG_ETS2_B ,  PEA3_Q6 ,  MGGAAGTG_GABP_B

Cytogenetic Map:

10q22.1

search → result