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Human ANPEP wild-type allele is located within 15q25-q26 and is approximately 30 kb in length. This allele, which encodes aminopeptidase N protein, is involved in the modulation of peptide hydrolysis and human infection by cytomegalovirus and coronavirus.
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A type of antinuclear antibody that specifically targets double stranded DNA; while these antibodies are sometimes detectable in multiple different autoimmune disorders, their presence is generally considered highly specific for systemic lupus erythematosus.
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This gene plays a role in the bone morphogenetic protein signaling pathway.
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An enzyme complex that can reversibly convert ATP and creatine to phosphocreatine and ADP. Cytosolic creatine kinases are comprised of homodimers or heterodimers of creatine kinase B-type protein and creatine kinase M-type protein. Mitochondrial creatine kinases are octomers comprised of either four homodimers of creatine kinase U-type, mitochondrial protein or four creatine kinase S-type, mitochondrial protein homodimers.
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Fatty acid-binding protein, heart (133 aa, ~15 kDa) is encoded by the human FABP3 gene. This protein plays a role in the intracellular transport of long-chain fatty acids and their acyl-CoA esters.
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Immunoglobulin Light Chain Kappa is one of two Ig light chain types. Each Ig molecule is typically composed of two heavy chains and two light chains. Ig kappa light chains contain a variable and a constant region. Kappa light chains are encoded by multiple V, J, and C gene segments, which are separated in the genomes of cells undifferentiated with regard to antibody gene expression. Diversity in the kappa light chain V region arises during differentiation of an activated (kappa-type) antibody-producing B-cell from variable recombination of kappa V genes with kappa J genes and somatic point mutation, which plays a major role in antibody diversity. (from OMIM and NCI)
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Immunoglobulin Light Chain Lambda is one of two Ig light chain types. Each Ig molecule is typically composed of two heavy chains and two light chains but Ig lambda light chains contain a variable and a constant region. Lambda light chains are encoded by multiple V, J, and C gene segments, which are separated in the genomes of cells undifferentiated with regard to antibody gene expression. During differentiation of an activated (lambda-type) antibody-producing B-cell, diversity in the lambda light chain V region arises from variable recombination of lambda V genes with lambda J genes and somatic point mutation, which plays a major role in antibody diversity. (from OMIM 147220 and NCI)
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Interferon gamma (166 aa, ~19 kDa) is encoded by the human IFNG gene. This protein is involved in antiviral activity, macrophage activation, antiproliferative activity and immunopotentiation.
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Exhibiting a broad range of biological activities on T and natural killer cells, Interleukin-12 is a disulfide-bonded heterodimeric cytokine composed of a 35-kD IL12A subunit (IL-6 Superfamily) and a 40-kDa IL12B subunit (Type I Cytokine Receptor 3 Family). IL12 stimulates T-cell-independent production of IFN-gamma by PBMCs, enhances NK cell lytic activity, acts as a growth factor for T- and NK-cells, and is important for Th1 and Th2 cell differentiation. Lymphocyte responses to IL12 require NOS2A and are mediated by STAT4 activator of transcription. (NCI)
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Plasminogen activator inhibitor 1 (402 aa, ~45 kDa) is encoded by the human SERPINE1 gene. This protein plays a role in both cell adhesion and the modulation of plasmin activity.
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This gene plays a role in the regulation of protein kinase A.
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Prostaglandin-H2 D-isomerase (190 aa, ~21 kDa) is encoded by the human PTGDS gene. This protein is involved in the conversion of prostaglandin H2 (PGH2) to prostaglandin D2 (PGD2).
