Il-12 P40 (IL12B) ELISA Kit for Human

This gene encodes a subunit of interleukin 12, a cytokine that acts on T and natural killer cells, and has a broad array of biological activities. Interleukin 12 is a disulfide-linked heterodimer composed of the 40 kD cytokine receptor like subunit encoded by this gene, and a 35 kD subunit encoded by IL12A. This cytokine is expressed by activated macrophages that serve as an essential inducer of Th1 cells development. This cytokine has been found to be important for sustaining a sufficient number of memory/effector Th1 cells to mediate long-term protection to an intracellular pathogen. Overexpression of this gene was observed in the central nervous system of patients with multiple sclerosis (MS), suggesting a role of this cytokine in the pathogenesis of the disease. The promoter polymorphism of this gene has been reported to be associated with the severity of atopic and non-atopic asthma in children. [provided by RefSeq, Jul 2008]

IL12B: Cytokine that can act as a growth factor for activated T and NK cells, enhance the lytic activity of NK/lymphokine- activated killer cells, and stimulate the production of IFN-gamma by resting PBMC. Defects in IL12B are a cause of mendelian susceptibility to mycobacterial disease (MSMD); also known as familial disseminated atypical mycobacterial infection. This rare condition confers predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine and environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. The pathogenic mechanism underlying MSMD is the impairment of interferon-gamma mediated immunity, whose severity determines the clinical outcome. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance. Genetic variations in IL12B are a cause of susceptibility to psoriasis type 11 (PSORS11). Psoriasis is a common, chronic inflammatory disease of the skin with multifactorial etiology. It is characterized by red, scaly plaques usually found on the scalp, elbows and knees. These lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and epidermis. Belongs to the type I cytokine receptor family. Type 3 subfamily.

Protein type: Secreted, signal peptide; Cytokine; Secreted

Chromosomal Location of Human Ortholog: 5q31.1-q33.1

Cellular Component: extracellular space; membrane; interleukin-12 complex; cytoplasm

Molecular Function: identical protein binding; hematopoietin/interferon-class (D200-domain) cytokine receptor activity; protein binding; interleukin-12 alpha subunit binding; protein homodimerization activity; growth factor activity; protein heterodimerization activity; cytokine activity; interleukin-23 receptor binding; interleukin-12 receptor binding

Biological Process: positive regulation of granulocyte macrophage colony-stimulating factor production; positive regulation of cell adhesion; positive regulation of T-helper 1 type immune response; negative regulation of interleukin-10 production; positive regulation of T cell mediated cytotoxicity; positive regulation of interleukin-12 production; positive regulation of osteoclast differentiation; negative regulation of smooth muscle cell proliferation; positive regulation of NK T cell proliferation; natural killer cell activation; positive regulation of tyrosine phosphorylation of Stat4 protein; positive regulation of NF-kappaB import into nucleus; sensory perception of pain; positive regulation of activated T cell proliferation; defense response to Gram-negative bacterium; positive regulation of interleukin-10 production; positive regulation of natural killer cell activation; positive regulation of tyrosine phosphorylation of Stat3 protein; positive regulation of lymphocyte proliferation; natural killer cell activation during immune response; positive regulation of T cell proliferation; negative regulation of inflammatory response to antigenic stimulus; cell cycle arrest; defense response to virus; regulation of cytokine biosynthetic process; positive regulation of interleukin-17 production; positive regulation of memory T cell differentiation; T-helper 1 type immune response; positive regulation of natural killer cell proliferation; cell migration; positive regulation of NK T cell activation; positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target; T-helper cell differentiation; cytokine and chemokine mediated signaling pathway; defense response to protozoan; positive regulation of tumor necrosis factor production; regulation of tyrosine phosphorylation of Stat1 protein; response to UV-B; positive regulation of tissue remodeling; positive regulation of interferon-gamma production; negative regulation of interleukin-17 production; positive regulation of tyrosine phosphorylation of Stat5 protein; positive regulation of mononuclear cell proliferation; sexual reproduction; interferon-gamma biosynthetic process; positive regulation of defense response to virus by host; positive regulation of interferon-gamma biosynthetic process; positive regulation of inflammatory response

Disease: Immunodeficiency 29