Neurobeachin Background Information
Neurobeachin, also known as NBEA, BCL8B or lysosomal-trafficking regulator 2 (LYST2), is a 2,946 amino acid A-kinase anchor protein that localizes to the cytoplasm and peripheral membrane, and belongs to the WD repeat neurobeachin family. By binding the type II regulatory subunits of protein kinase A (PKA), Neurobeachin is able to anchor PKA to the membrane or cytoskeletal and organelle-associated proteins. Neurobeachin is expressed predominantly in brain, with moderate levels found in thymus, prostate, spleen, ovary and testis. Lower levels have been found in kidney, heart, skeletal muscle, intestine and pancreas. Neurobeachin exists as two alternatively spliced isoforms and contains one BEACH domain and five WD repeats. Mutations of the gene encoding Neurobeachin is associated with idiopathic autism and is disrupted in patients with multiple myeloma.
