P2RX7

P2RX7 is a gene that encodes the P2X purinoceptor 7, a member of the P2X receptor family of ATP-gated ion channels. The P2X7 receptor is expressed in a variety of tissues, including the brain, immune system, and bone. It plays a crucial role in various physiological and pathological processes, such as inflammation, apoptosis, and neurotransmission.

Structure

The P2RX7 gene is located on the chromosome 12 (12q24) and consists of 13 exons. The encoded protein is a 595 amino acid polypeptide that forms a trimeric ion channel. Each subunit of the trimer contains two transmembrane domains, with both the N-terminus and C-terminus located intracellularly.

Function

The P2X7 receptor is activated by high concentrations of extracellular ATP. Upon activation, it forms a non-selective cation channel, allowing the passage of sodium, calcium, and potassium ions. This leads to depolarization of the cell membrane and a variety of downstream effects, depending on the cell type.

In immune cells, activation of P2X7 can lead to the release of pro-inflammatory cytokines, such as IL-1β, and induction of apoptosis. In neurons, P2X7 activation can modulate neurotransmitter release.

Clinical significance

Mutations in the P2RX7 gene have been associated with a variety of diseases, including chronic lymphocytic leukemia, bipolar disorder, and major depressive disorder. In addition, altered P2X7 function has been implicated in neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease, and in inflammatory diseases, such as rheumatoid arthritis and Crohn's disease.

Research

Given its role in disease, the P2X7 receptor is a potential target for therapeutic intervention. Several P2X7 antagonists are currently under investigation for the treatment of inflammatory and neurodegenerative diseases.

File:P2X7 Receptor.png

P2X7 Receptor

See also

• P2X receptor
• ATP-gated ion channel
• Inflammation
• Apoptosis
• Neurotransmission