LOVD P2RX7 homepage

General information
Gene name purinergic receptor P2X, ligand-gated ion channel, 7
Gene symbol P2RX7
Chromosome Location 12q24
Database location genome.igib.res.in
Curator Ruchika Sahajpal and Sweety Raj
Date of creation December 03, 2010
Last update November 18, 2012
Version P2RX7 121118
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Total number of unique DNA variants reported 0
Total number of individuals with variant(s) 0
Total number of variants reported 0
NOTE The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel and is responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules Activation of this nuclear receptor by ATP in the cytoplasm may be a mechanism by which cellular activity can be coupled to changes in gene expression. Multiple alternatively spliced variants have been identified, most of which fit nonsense-mediated decay (NMD) criteria

Links to other resources
Homepage http://fishmap2.igib.res.in/tblovd
External link #1 HGNC
External link #2 NCBI
External link #3 Genecards
Entrez Gene 5027
OMIM - Gene 602566
HGMD P2RX7
GeneTests P2RX7