NLRP1 : NLR family pyrin domain containing 1

Description

The NLRP1 (NLR family pyrin domain containing 1) is a protein-coding gene located on chromosome 17.

The NLRP1 gene provides instructions for making a member of a family of proteins called nucleotide-binding domain and leucine-rich repeat containing (NLR) proteins. These proteins are involved in the immune system, helping to regulate the process of inflammation. Inflammation occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and facilitate tissue repair. The body then stops (inhibits) the inflammatory response to prevent damage to its own cells and tissues. The NLRP1 protein is involved in the assembly of a molecular complex called an inflammasome, which helps trigger the inflammatory process in response to the presence of bacteria or viruses. Researchers believe that the NLRP1 protein may also play a role in the self-destruction of cells (apoptosis).

The NLRP1 gene provides instructions for making a protein involved in the immune system's inflammatory response. It acts as a sensor for various pathogens and damage signals, triggering the assembly of a molecular complex called the NLRP1 inflammasome. This inflammasome complex activates caspase-1, leading to the release of inflammatory cytokines IL1B and IL18, and ultimately, cell death (pyroptosis). NLRP1 also contributes to antiviral immunity and inflammation in the airway epithelium. It can be activated by various signals, including viral proteins, double-stranded RNA, UV-B irradiation, and muramyl dipeptide. Additionally, NLRP1 interacts with other proteins, such as BCL2, NOD2, and EIF2AK2, influencing its activity and downstream effects.

NLRP1 is also known as AIADK, CARD7, CIDED, CLR17.1, DEFCAP, DEFCAP-L/S, JRRP, MSPC, NAC, NALP1, PP1044, SLEV1, VAMAS1.

Associated Diseases

Comprehensive carrier screening

WES Whole Exome Sequencing

Clinical Exome Sequencing