The ANKLE2 Polyclonal Antibody, Cy3 Conjugated from Bioss Inc. is a Rabbit Polyclonal antibody. This antibody recognizes Homo Sapiens, Human, and Mouse antigen. The ANKLE2 Polyclonal Antibody, Cy3 Conjugated has been shown to work in the following applications: Immunofluorescence, Immunohistochemistry, Immunohistochemistry - fixed, and Western Blot.
Description
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. ANKLE2 (ankyrin repeat and LEM domain containing 2), also known as LEMD7, is a 938 amino acid single-pass membrane protein containing an ANK repeat and a LEM domain. Exsiting as two isoforms produced by alternative splicing events, the gene encoding ANKLE2 maps to human chromosome 12, which encodes over 1,100 genes and comprises approximately 4.5% of the human genome. Chromosome 12 is associated with a variety of diseases and afflictions, including hypochondrogenesis, achondrogenesis, Kniest dysplasia, Noonan syndrome and trisomy 12p, which causes facial developmental defects and seizure disorders