Aliases for NBEA Gene
External Ids for NBEA Gene
Previous GeneCards Identifiers for NBEA Gene
This gene encodes a member of a large, diverse group of A-kinase anchor proteins that target the activity of protein kinase A to specific subcellular sites by binding to its type II regulatory subunits. Brain-specific expression and coat protein-like membrane recruitment of a highly similar protein in mouse suggest an involvement in neuronal post-Golgi membrane traffic. Mutations in this gene may be associated with a form of autism. This gene and its expression are frequently disrupted in patients with multiple myeloma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants may exist, but their full-length nature has not been determined.[provided by RefSeq, Feb 2011]
GeneCards Summary for NBEA Gene
NBEA (Neurobeachin) is a Protein Coding gene. Diseases associated with NBEA include Cerebellar, Ocular, Craniofacial, And Genital Syndrome and Atrial Septal Defect 1. Gene Ontology (GO) annotations related to this gene include binding and phospholipid binding. An important paralog of this gene is LRBA.
UniProtKB/Swiss-Prot Summary for NBEA Gene
Binds to type II regulatory subunits of protein kinase A and anchors/targets them to the membrane. May anchor the kinase to cytoskeletal and/or organelle-associated proteins (By similarity).