Aliases for AMPH Gene
External Ids for AMPH Gene
Previous GeneCards Identifiers for AMPH Gene
This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with stiff-man syndrome who were also affected by breast cancer are positive for autoantibodies against this protein. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences have not been determined. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Nov 2010]
GeneCards Summary for AMPH Gene
AMPH (Amphiphysin) is a Protein Coding gene. Diseases associated with AMPH include Stiff-Person Syndrome and Limbic Encephalitis. Among its related pathways are Beta-Adrenergic Signaling and Endocytosis. Gene Ontology (GO) annotations related to this gene include phospholipid binding. An important paralog of this gene is BIN1.
UniProtKB/Swiss-Prot Summary for AMPH Gene
May participate in mechanisms of regulated exocytosis in synapses and certain endocrine cell types. May control the properties of the membrane associated cytoskeleton.