AMPH wt Allele

**Semantic type:** Gene or Genome

**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.

**Synonyms:** - AMPH1 - Amphiphysin (Stiff-Man Syndrome with Breast Cancer 128kDa Autoantigen) wt Allele - Amphiphysin Gene