PGAM2 Antibody – Mouse Monoclonal

Ankyrins are a family of proteins that 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 1, the prototype of this family, was first discovered in the erythrocytes, but since has also been found in brain and muscles. Mutations in erythrocytic ankyrin 1 have been associated in approximately half of all patients with hereditary spherocytosis. Complex patterns of alternative splicing in the regulatory domain, giving rise to different isoforms of ankyrin 1 have been described. Truncated muscle-specific isoforms of ankyrin 1 resulting from usage of an alternate promoter have also been identified. [provided by RefSeq, Dec 2008]

ANK1: Attaches integral membrane proteins to cytoskeletal elements; binds to the erythrocyte membrane protein band 4.2, to Na-K ATPase, to the lymphocyte membrane protein GP85, and to the cytoskeletal proteins fodrin, tubulin, vimentin and desmin. Erythrocyte ankyrins also link spectrin (beta chain) to the cytoplasmic domain of the erythrocytes anion exchange protein; they retain most or all of these binding functions. Defects in ANK1 are a cause of spherocytosis type 1 (SPH1); also called hereditary spherocytosis type 1 (HS1). Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. Inheritance can be autosomal dominant or recessive. 21 isoforms of the human protein are produced by alternative promoter.

Protein type: Cell development/differentiation; Endoplasmic reticulum; Adaptor/scaffold; Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 8p11.1

Cellular Component: cortical cytoskeleton; postsynaptic membrane; cytoskeleton; sarcoplasmic reticulum; basolateral plasma membrane; plasma membrane; M band; axolemma; cytosol; Z disc; nucleus; sarcolemma

Molecular Function: protein binding; enzyme binding; spectrin binding; structural constituent of cytoskeleton; cytoskeletal adaptor activity; structural molecule activity; ATPase binding

Biological Process: axon guidance; ER to Golgi vesicle-mediated transport; iron ion homeostasis; erythrocyte development; exocytosis; monovalent inorganic cation transport; cytoskeleton organization and biogenesis; signal transduction; porphyrin biosynthetic process; maintenance of epithelial cell polarity

Disease: Spherocytosis, Type 1