NBEA

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. Alternatively spliced transcript variants may exist, but their full-length nature has not been determined. [provided by RefSeq]

Full Name

neurobeachin

Function

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).

Biological Process

Protein localization Source: GO_Central

Cellular Location

Cytoplasm
Other locations
Membrane

Involvement in disease

Neurodevelopmental disorder with or without early-onset generalized epilepsy (NEDEGE):
An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development, speech delay, and behavioral abnormalities including autism or autistic features, attention deficits and hyperactivity, or aggressive behavior. About half of patients develop early-onset generalized epilepsy with different seizure types. The disease is apparent from infancy or early childhood.