Gene: AMPH

Alternate names for this Gene: AMPH1

Gene Summary: 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.

Gene is located in Chromosome: 7

Location in Chromosome : 7p14.1

Description of this Gene: amphiphysin

Type of Gene: protein-coding

rs3807390 in AMPH gene and Esophageal Neoplasms PMID 22960999 2012 Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.