Immunity-Related Gtpase Family M Protein (IRGM) Human Recombinant Protein

This gene encodes a member of the p47 immunity-related GTPase family. The encoded protein may play a role in the innate immune response by regulating autophagy formation in response to intracellular pathogens. Polymorphisms that affect the normal expression of this gene are associated with a susceptibility to Crohn's disease and tuberculosis.[provided by RefSeq, Oct 2010]

IRGM: Putative GTPase which is required for clearance of acute protozoan and bacterial infections. Functions in innate immune response probably through regulation of autophagy. May regulate proinflammatory cytokine production and prevent endotoxemia upon infection. May also play a role in macrophages adhesion and motility. Defects in IRGM are the cause of susceptibility to inflammatory bowel disease type 19 (IBD19). A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. Belongs to the interferon-inducible GTPase family.

Protein type: Hydrolase; Endoplasmic reticulum; EC 3.6.5.-

Chromosomal Location of Human Ortholog: 5q33.1

Cellular Component: Golgi membrane; phagocytic vesicle membrane; cell projection; phagocytic cup

Molecular Function: GTP binding; hydrolase activity

Biological Process: autophagy; innate immune response; inflammatory response

Disease: Mycobacterium Tuberculosis, Susceptibility To; Inflammatory Bowel Disease 19