AMPH wt Allele
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AMPH wt Allele 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.
AMPH wt Allele Synonyms
AMPH wt Allele, AMPH1, Amphiphysin (Stiff-Man Syndrome with Breast Cancer 128kDa Autoantigen) wt Allele, Amphiphysin Gene
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