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Genetic Disorder Antibodies

Genetics is a discipline of biology which studies the science of genes, heredity, and variation among living creatures. Genes are units of heredity and typically live on DNA (deoxyribonucleic acid). DNA is a double helix type structure composed of nucleotides. The sequence of these nucleotides encode for the instructions for the organism to build and maintain bodily cells and pass genetic traits onto their offspring. Inherited traits encompass many characteristics like hair texture, eye color, and certain medical attributes. Certain traits can be passed down from one generation to the next while other traits may skip a generation or two. The likelihood that one offspring will inherit a trait depends on the particular coding and characteristics of the gene itself on the DNA. Some traits are recessive, meaning that they are made up of a homozygous genotype. If a genetic trait is recessive, like having blue eyes, a person will need to have 2 copies of the recessive blue eye gene (one from the mother, one from the father) for that trait to be expressed. Those with only one copy are called carriers although the recessive trait is typically not expressed. Conversely, if a genetic trait is dominant, like having brown eyes, a person only needs to have one copy of the brown eye gene for it to dominate over any other recessive eye color gene eventually leading to the individual’s brown eyes. This is usually heterozygous genotype, although an individual can have two copies of the dominant eye color gene making the genotype homozygous. Genetic disorders are passed down in the same fashion as other genes for physical characteristics like eye color and hair texture. Genetic disorders are caused by an abnormality in the organism’s genetic make-up or DNA. These mutated genes can be passed down from generation to generation of progeny. They can be carried on by either a recessive or dominant inherited mechanism. Cystic fibrosis and albinism for example, are recessively inherited genetic disorders which result from inheriting two defective recessive copies of a gene from each parent. Offspring will have a fifty-fifty chance of inheriting a dominant genetic disorder if only one of their parents is affected. Examples of dominant genetic disorders include Huntington’s disease, and high blood cholesterol. Genetic disorder antibodies bind against proteins involved in genetic disorders and have a wide array of uses in research and medicine.

The anti-CARD15 antibody binds against the peptide CARD15. CARD15 confers responsiveness to intracellular bacterial lipopolysaccharides (LPS) and induces NF-kappa-B via RICK (CARDIAK, RIP2) and IKK-gamma. CARD15 protein is located in the cytoplasm of monocytes. Defects in CARD2 are the cause of Blau syndrome, sarcoidosis early-onset, and inflammatory bowel disease type 1. Blau syndrome and early onset sarcoidosis are dominant genetic disorders characterized by arthritis and skin granulomas (tumors or papules). Blau syndrome and early onset sarcoidosis are inflammatory diseases characterized by granulomas on the lungs, lymph nodes, skin, eyes, and liver. Inflammatory bowel disease can sometimes accompany a diagnosis of early onset sarcoidosis or Blau syndrome. Inflammatory bowel disease is characterized by abdominal pain, diarrhea, rectal bleeding, and severe internal cramps. Anti-Tafazzin antibody, or TAZ antibody binds against the target protein TAZ localized in the cytoplasm and membranes of cells in the heart and other skeletal muscles. The TAZ protein is involved in cardiolipid (CL) metabolism. Defects in tafazzin are the cause of 3-methylglutaconic aciduria type 2 (also known as Barth syndrome) and left ventricular non-compaction X-linked (LVNCX). 3-methylglutaconic aciduria type 2 or Barth syndrome (BTHS) is a serious X-linked genetic disorder affecting mainly males. Barth Syndrome is characterized by a weak heart muscle, a reduction in neutrophils, underdeveloped skeletal musculature, and delayed growth. Although treatment is currently being perfected, many affected individuals will die of heart failure by the age of 4. Left ventricular non-compaction is a rare type of hereditary cardiomyopathy with a poor prognosis. Left ventricular non-compaction is characterized by the presence of multiple recesses in the ventricular myocardium. Affected individuals typically die of heart failure (sudden death).

 
Product Number Title Applications Host Clonality
AC21-0051-01 Anti-SHP2 Antibody (AMCA) ELISA, WB, IHC Goat Polyclonal
AC21-0051-02 Anti-SHP2 Antibody (AP) ELISA, WB, IHC Goat Polyclonal
AC21-0051-03 Anti-SHP2 Antibody (APC) ELISA, WB, IHC Goat Polyclonal
AC21-0051-04 Anti-SHP2 Antibody (APC-Cy5.5) ELISA, WB, IHC Goat Polyclonal
AC21-0051-05 Anti-SHP2 Antibody (APC-Cy7) ELISA, WB, IHC Goat Polyclonal
AC21-0051-06 Anti-SHP2 Antibody (Avidin) ELISA, WB, IHC Goat Polyclonal
AC21-0051-07 Anti-SHP2 Antibody (Biotin) ELISA, WB, IHC Goat Polyclonal
AC21-0051-08 Anti-SHP2 Antibody (BPE) ELISA, WB, IHC Goat Polyclonal
AC21-0051-09 Anti-SHP2 Antibody (Cy3) ELISA, WB, IHC Goat Polyclonal
AC21-0051-10 Anti-SHP2 Antibody (Cy5) ELISA, WB, IHC Goat Polyclonal
AC21-0051-11 Anti-SHP2 Antibody (Cy5.5) ELISA, WB, IHC Goat Polyclonal
AC21-0051-12 Anti-SHP2 Antibody (FITC) ELISA, WB, IHC Goat Polyclonal