Ankyrin-G (ANK3) Antibody – Mouse Monoclonal

Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact, and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 3 is an immunologically distinct gene product from ankyrins 1 and 2, and was originally found at the axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]

ANK3: In skeletal muscle, required for costamere localization of DMD and betaDAG1. Membrane-cytoskeleton linker. May participate in the maintenance/targeting of ion channels and cell adhesion molecules at the nodes of Ranvier and axonal initial segments. Genetic variations in ANK3 are associated with autism spectrum disorders susceptibility. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Adaptor/scaffold; Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 10q21

Cellular Component: Golgi apparatus; costamere; cell surface; tight junction; sarcoplasmic reticulum; lysosome; endoplasmic reticulum; basolateral plasma membrane; dendrite; paranode region of axon; T-tubule; Z disc; postsynaptic membrane; basal plasma membrane; plasma membrane; neuromuscular junction; sarcolemma; lateral plasma membrane

Molecular Function: protein binding, bridging; protein binding; spectrin binding; structural constituent of cytoskeleton; cadherin binding; cytoskeletal protein binding

Biological Process: axon guidance; establishment of protein localization; cytokinesis after mitosis; plasma membrane organization and biogenesis; axonogenesis; cytoskeletal anchoring; regulation of potassium ion transport; Golgi to plasma membrane protein transport; generation of action potential; signal transduction; positive regulation of membrane potential; neuromuscular junction development; positive regulation of homotypic cell-cell adhesion

Disease: Mental Retardation, Autosomal Recessive 37