Hla-c Antigens

	Hla-c Antigens HLA-C (Human Leukocyte Antigen-C) belongs to the MHC class I heavy chain receptors. The C receptor is a heterodimer consisting of a HLA-C mature gene product and β2-microglobulin. The mature C chain is anchored in the membrane. MHC Class I molecules, like HLA-C, are expressed in nearly all cells, and present small peptides to the immune system which surveys for non-self peptides. HLA-C is a locus on chromosome 6, which encodes for many HLA-C alleles that are Class-I MHC receptors. HLA-C, localized proximal to the HLA-B locus, is located on the distal end of the HLA region. Most HLA-C:B haplotypes are in strong linkage disequilibrium and many are as ancient as the human species itself. Disease associations By serotype Cw1: multinodular goiters By allele C16: B-cell chronic lymphocytic leukemia Nomenclature C01 Cw1 serotype: C01:02 and C01:09 Cw11 C01:04 to 01:08 C02 Cw2 serotype: C02:02 and 02:08 C02:03 to 02:07, and 02:09 C03 Cw9 serotype: C0 ... [...More Info...] [...Related Items...] OR:* [Wikipedia] [Google] [Baidu]
	MHC Class I MHC class I molecules are one of two primary classes of major histocompatibility complex (MHC) molecules (the other being MHC class II) and are found on the cell surface of all nucleated cells in the bodies of vertebrates. They also occur on platelets, but not on red blood cells. Their function is to display peptide fragments of proteins from within the cell to cytotoxic T cells; this will trigger an immediate response from the immune system against a particular non-self antigen displayed with the help of an MHC class I protein. Because MHC class I molecules present peptides derived from cytosolic proteins, the pathway of MHC class I presentation is often called ''cytosolic'' or ''endogenous pathway''. In humans, the HLAs corresponding to MHC class I are HLA-A, HLA-B, and HLA-C. Function Class I MHC molecules bind peptides generated mainly from the degradation of cytosolic proteins by the proteasome. The MHC I: peptide complex is then inserted via the endoplasmic re ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
	Beta-2 Microglobulin β2 microglobulin (B2M) is a component of MHC class I molecules. MHC class I molecules have α1, α2, and α3 proteins which are present on all nucleated cells (excluding red blood cells). In humans, the β2 microglobulin protein is encoded by the ''B2M'' gene. Structure and function β2 microglobulin lies beside the α3 chain on the cell surface. Unlike α3, β2 has no transmembrane region. Directly above β2 (that is, further away from the cell) lies the α1 chain, which itself is next to the α2. β2 microglobulin associates not only with the alpha chain of MHC class I molecules, but also with class I-like molecules such as CD1 (5 genes in humans), MR1, the neonatal Fc receptor (FcRn), and Qa-1 (a form of alloantigen). Nevertheless, the β2 microglobulin gene is outside of the MHC (HLA) locus, on a different chromosome. An additional function is association with the HFE protein, together regulating the expression of hepcidin in the liver which targets the iron transport ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
picture info	Linkage Disequilibrium Linkage disequilibrium, often abbreviated to LD, is a term in population genetics referring to the association of genes, usually linked genes, in a population. It has become an important tool in medical genetics and other fields In defining LD, it is important first to distinguish the two very different concepts, linkage disequilibrium and linkage (genetic linkage). Linkage disequilibrium refers to the association of genes ''in a population.'' Linkage, on the other hand, tells us whether genes are on the same chromosome ''in an individual''. There is no necessary relationship between the two. Genes that are closely linked may or may not be associated in populations. Looking at parents and offspring, if genes at closely linked loci are together in the parent then they will usually be together in the offspring. But looking at individuals in a population with no known common ancestry, it is much more difficult to see any relationships. To give a concrete, although imaginary, example i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
picture info	Serotype A serotype or serovar is a distinct variation within a species of bacteria or virus or among immune cells of different individuals. These microorganisms, viruses, or Cell (biology), cells are classified together based on their shared reactivity between their surface antigens and a particular antiserum, allowing the classification of organisms to a Infraspecific name, level below the species. A group of serovars with common antigens is called a serogroup or sometimes ''serocomplex''. Serotyping often plays an essential role in determining species and subspecies. The ''Salmonella'' genus of bacteria, for example, has been determined to have over 2600 serotypes. ''Vibrio cholerae'', the species of bacteria that causes cholera, has over 200 serotypes, based on cell antigens. Only two of them have been observed to produce the potent enterotoxin that results in cholera: O1 and O139. Serotypes were discovered in hemolytic streptococci by the American microbiologist Rebecca Lancefield i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
picture info	Multinodular Goiter A goitre (British English), or goiter (American English), is a swelling in the neck resulting from an enlarged thyroid gland. A goitre can be associated with a thyroid that is not functioning properly. Worldwide, over 90% of goitre cases are caused by iodine deficiency. The term is from the Latin ''gutturia'', meaning throat. Most goitres are not cancerous (benign), though they may be potentially harmful. Signs and symptoms A goitre can present as a palpable or visible enlargement of the thyroid gland at the base of the neck. A goitre, if associated with hypothyroidism or hyperthyroidism, may be present with symptoms of the underlying disorder. For hyperthyroidism, the most common symptoms are associated with adrenergic stimulation: tachycardia (increased heart rate), palpitations, nervousness, tremor, increased blood pressure and heat intolerance. Clinical manifestations are often related to hypermetabolism (increased metabolism), excessive thyroid hormone, an increase in oxy ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
picture info	Allele An allele is a variant of the sequence of nucleotides at a particular location, or Locus (genetics), locus, on a DNA molecule. Alleles can differ at a single position through Single-nucleotide polymorphism, single nucleotide polymorphisms (SNP), but they can also have insertions and deletions of up to several thousand base pairs. Most alleles observed result in little or no change in the function or amount of the gene product(s) they code or regulate for. However, sometimes different alleles can result in different observable phenotypic traits, such as different pigmentation. A notable example of this is Gregor Mendel's discovery that the white and purple flower colors in pea plants were the result of a single gene with two alleles. Nearly all multicellular organisms have two sets of chromosomes at some point in their biological life cycle; that is, they are diploid. For a given locus, if the two chromosomes contain the same allele, they, and the organism, are homozygous with re ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
picture info	B-cell Chronic Lymphocytic Leukemia Chronic lymphocytic leukemia (CLL) is a type of cancer that affects the blood and bone marrow. In CLL, the bone marrow makes too many lymphocytes, which are a type of white blood cell. In patients with CLL, B cell lymphocytes can begin to collect in their blood, spleen, lymph nodes, and bone marrow. These cells do not function well and crowd out healthy blood cells. CLL is divided into two main types: # Slow-growing CLL (indolent CLL) # Fast-growing CLL Many people do not have any symptoms when they are first diagnosed. Those with symptoms (about 5-10% of patients with CLL) may experience the following: * Fevers * Fatigue * Night sweats * Unexplained weight loss * Loss of appetite * Painless lymph node swelling * Enlargement of the spleen, and/or * A low red blood cell count (anemia). These symptoms may worsen over time. While the exact cause of CLL is unknown, having a family member with CLL increases one's risk of developing the disease. Environmental risk factors includ ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
	KIR2DL1 Killer cell immunoglobulin-like receptor 2DL1 is a protein that in humans is encoded by the ''KIR2DL1'' gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei .... Function Killer-cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR2DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasm ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
	Leukocyte Immunoglobulin-like Receptors The leukocyte immunoglobulin-like receptors (LILR) are a family of receptors possessing extracellular immunoglobulin domains. They are also known as CD85, ILTs and LIR, and can exert immunomodulatory effects on a wide range of immune cells.Damian Brown, Rachel L Allen, & John Trowsdale. The LILR family: modulators of innate and adaptive immune pathways in health and disease. Tissue Antigens (2004) 64:215 http://onlinelibrary.wiley.com/doi/10.1111/j.0001-2815.2004.00290.x/pdf The human genes encoding these receptors are found in a gene cluster at chromosomal region 19q13.4. They include * LILRA1 * LILRA2 * LILRA3 * LILRA4 * LILRA5 * LILRA6 * LILRB1 * LILRB2 * LILRB3 * LILRB4 * LILRB5 * LILRB6 or LILRA6 * LILRB7 or LILRA5 A subset of LILR recognise MHC class I (also known as HLA class I in humans). The LILR family is a cluster of paired receptors with both activating and inhibitory functions. Of these, the inhibitory receptors LILRB1 and LILRB2 show a broad speci ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
	LILRA1 Leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 is a protein that in humans is encoded by the ''LILRA1'' gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei .... References Further reading * * * * * * * * * {{gene-19-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
	LILRA3 Leukocyte immunoglobulin-like receptor subfamily A member 3 (LILR-A3) also known as CD85 antigen-like family member E (CD85e), immunoglobulin-like transcript 6 (ILT-6), and leukocyte immunoglobulin-like receptor 4 (LIR-4) is a protein that in humans is encoded by the ''LILRA3'' gene located within the leukocyte receptor complex on chromosome 19q13.4. Unlike many of its family, LILRA3 lacks a transmembrane domain. The function of LILRA3 is currently unknown; however, it is highly homologous to other LILR genes, and can bind human leukocyte antigen (HLA) class I. Therefore, if secreted, the LILRA3 might impair interactions of membrane-bound LILRs (such as LILRB1, an inhibitory receptor expressed on effector and memory CD8 T cells) with their HLA ligands, thus modulating immune reactions and influencing susceptibility to disease. Like the closely related LILRA1, LILRA3 binds to both normal and 'unfolded' free heavy chains of HLA class I, with a preference for free heavy chains of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]