Background: Ankyrins are membrane adaptor molecules that play important roles in coupling integral membrane proteins to the spectrin-based cytoskeleton network. Mutations of ankyrin genes lead to severe genetic diseases, such as fatal cardiac arrhythmias and hereditary spherocytosis. ANKRD50 (ankyrin repeat domain 50) is a 1,429 amino acid phosphoprotein that contains nineteen ANK repeats. Conserved in chimpanzee, dog, cow, mouse, rat, chicken, zebrafish, fruit fly and mosquito, ANKRD50 is encoded by a gene that maps to human chromosome 4q28.1. Chromosome 4 represents approximately 6% of the human genome and contains nearly 900 genes. Notably, the Huntingtin gene, which encodes an expanded glutamine tract in cases of Huntington's disease, is located on chromosome 4. FGFR-3 is also encoded by a gene that maps to human chromosome 4 and has been associated with thanatophoric dwarfism, achondroplasia, Muenke syndrome and bladder cancer. Chromosome 4 is also linked to Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease.
Description: Rabbit polyclonal to ANKRD50
Immunogen: KLH conjugated synthetic peptide derived from ANKRD50
Specificity: ·Reacts with Human, Mouse and Rat.
·Isotype: IgG
Application: ·Western blotting: 1/100-500. Predicted Mol wt: 156 kDa;
·Immunohistochemistry (Paraffin/frozen tissue section): 1/100-200;
·Immunocytochemistry: 1/100;
·Immunoprecipitation: 1/50;
·ELISA: 1/500;
·Optimal working dilutions must be determined by the end user.