" /> AMPH wt Allele - CISMeF





Preferred Label : AMPH wt Allele;

NCIt synonyms : Amphiphysin Gene; Amphiphysin (Stiff-Man Syndrome with Breast Cancer 128kDa Autoantigen) wt Allele; AMPH1;

NCIt definition : Human AMPH wild-type allele is located within 7p14-p13 and is approximately 248 kb in length. This allele, which encodes amphiphysin protein, is involved in both clathrin-mediated synaptic vesicle recycling and clathrin-mediated endocytosis in nerve terminals. The AMPH gene is associated with the development of paraneoplastic syndromes such as stiff-person syndrome.;

NCIt note : The AMPH gene produces two mRNA transcript variants via alternative splicing which, in turn, encode distinct isoforms of the amphiphysin protein. This gene plays a putative role in the regulation of exocytosis in both synapses and certain endocrine cell types. The AMPH gene may also be involved in controlling the properties of the membrane-associated cytoskeleton.;

GenBank Accession Number : NM_001635;

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08/05/2025


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