DATASHEET
Host:
Rabbit
Target Protein:
ANKRD50
Immunogen Range:
201-300/1429
Clonality:
Polyclonal
Isotype:
IgG
Entrez Gene:
57182
Source:
KLH conjugated synthetic peptide derived from human ANKRD50
Purification:
Purified by Protein A.
Storage Buffer:
Aqueous buffered solution containing 0.01M TBS (pH 7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.
Storage:
Store at -20°C. Aliquot into multiple vials to avoid repeated freeze-thaw cycles.
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.