Description
Product Characteristics:
Defects in NOD2 are the cause of sarcoidosis early-onset (EOS). EOS is a form of sarcoidosis manifesting in children younger than 4 years of age. Sarcoidosis is an idiopathic, systemic, inflammatory disease characterized by the formation of immune granulomas in involved organs. Granulomas predominantly invade the lungs and the lymphatic system, but also skin, liver, spleen, eyes and other organs may be involved. Early-onset sarcoidosis is quite rare and has a distinct triad of skin, joint and eye disorders, without apparent pulmonary involvement. Compared with an asymptomatic and sometimes naturally disappearing course of the disease in older children, early-onset sarcoidosis is progressive and in many cases causes severe complications, such as blindness, joint destruction and visceral involvement.
Subcellular location: Cytoplasm
Synonyms: ACUG, Arthrocutaneouveal granulomatosis, BLAU, CARD15, Caspase recruitment domain protein 15, Caspase recruitment domain-containing protein 15, IBD1, Inflammatory bowel disease protein 1, LRR containing protein, LRR-containing protein, Nod2, NOD2 protein, NOD2_HUMAN, NOD2B, nucleotide binding oligomerization domain 2, nucleotide-binding oligomerization domain 2, Nucleotide-binding oligomerization domain-containing protein 2, PSORAS1.
Target Information: This gene is a member of the Nod1/Apaf-1 family and encodes a protein with two caspase recruitment (CARD) domains and six leucine-rich repeats (LRRs). The protein is primarily expressed in the peripheral blood leukocytes. It plays a role in the immune response to intracellular bacterial lipopolysaccharides (LPS) by recognizing the muramyl dipeptide (MDP) derived from them and activating the NFKB protein. Mutations in this gene have been associated with Crohn disease and Blau syndrome. [provided by RefSeq, Jul 2008]