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 Neurotransmitter Release Cycle and Protein-protein interactions at synapses. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol-4,5-bisphosphate binding. An important paralog of this gene is APBA2.
UniProtKB/Swiss-Prot Summary 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 amyloid-beta precursor protein (APP) and hence formation of APP-beta.