Entrez gene ID | | 273 |
Official gene symbol | | AMPH |
Full name | | amphiphysin |
Aliases | | ,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. |
Location | | Chromosome: 7 Locus: 7p14-p13 |
Gene position | | 38671020 - 38423305 Map Viewer |
Gene orientation | | minus |
Gene size | | 247716 bp |
Gene sequence |
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OMIM ID | | 600418 |
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