LPS-stimulated RAW 264.7 macrophage protein 47 homolog
機能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.
組織特異性Widely expressed (at protein level). Expressed in several tissues including colon, small bowel and peripheral blood leukocytes.
関連疾患Defects in IRGM are the cause of susceptibility to inflammatory bowel disease type 19 (IBD19) [MIM:612278]. 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.
配列類似性Belongs to the interferon-inducible GTPase family.
細胞内局在Golgi apparatus membrane. Cell membrane. Cytoplasmic vesicle > phagosome membrane. Cytoplasmic vesicle > autophagosome membrane. Cell projection > phagocytic cup. Behaves like an integral membrane protein (By similarity). Recruited to the plasma membrane around forming phagocytic cups, it remains associated with maturing autophagosomes (By similarity). Preferentially associated with cis- and medial-Golgi.