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BAP1 Probe 10 Test

** This product is for in vitro and research use only. This product is not intended for diagnostic use.

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BAP1-10-RE  (Standard Design) 10 (20 μL) 100 μL

Gene Summary

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. [provided by RefSeq, Aug 2017]

Gene Details

Gene Symbol: PRF1

Gene Name: Perforin 1

Chromosome: CHR10: 72357103-72362531

Locus: 10q22.1

FISH Probe Protocols

Protocol, Procedure, or Form Name Last Modified Download

Customer Publications

There are currently no FISH related publications for this gene.