AMPH, Official Symbol AMPHprovided by HGNC Official Full Name amphiphysinprovided by HGNC Primary source HGNC:HGNC:471 See related Ensembl:ENSG00000078053 MIM:600418; AllianceGenome:HGNC:471 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AMPH1 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.[provided by RefSeq, Nov 2010] Expression Biased expression in brain (RPKM 20.2), endometrium (RPKM 1.4) and 4 other tissues See more Orthologs mouse all