Aliases for APBA1 Gene
External Ids for APBA1 Gene
Previous HGNC Symbols for APBA1 Gene
Previous GeneCards Identifiers for APBA1 Gene
The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. [provided by RefSeq, Jul 2008]
GeneCards Summary for APBA1 Gene
APBA1 (Amyloid Beta Precursor Protein Binding Family A Member 1) is a Protein Coding gene. Diseases associated with APBA1 include Alzheimer Disease and Neuronal Intranuclear Inclusion Disease. Among its related pathways are Transmission across Chemical Synapses and Neurotransmitter Release Cycle. GO annotations related to this gene include protein complex binding and phosphatidylinositol-4,5-bisphosphate binding. An important paralog of this gene is APBA2.
UniProtKB/Swiss-Prot for APBA1 Gene
Putative function in synaptic vesicle exocytosis by binding to Munc18-1, an essential component of the synaptic vesicle exocytotic machinery. May modulate processing of the beta-amyloid precursor protein (APP) and hence formation of beta-APP.