Entrez gene ID | | 26960 |
Official gene symbol | | NBEA |
Full name | | neurobeachin |
Aliases | | ,BCL8B,LYST2, |
Gene summary | | 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] |
Location | | Chromosome: 13 Locus: 13q13 |
Gene position | | 35516424 - 36246873 Map Viewer |
Gene orientation | | plus |
Gene size | | 730450 bp |
Gene sequence |
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OMIM ID | | 604889 |
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