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- NCIT_C52057 IAO_0000115 "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." @default.
- NCIT_C52057 NCIT_NHC0 "C52057" @default.
- NCIT_C52057 NCIT_P100 "600418" @default.
- NCIT_C52057 NCIT_P101 "Amphiphysin Family" @default.
- NCIT_C52057 NCIT_P102 "NM_001635" @default.
- NCIT_C52057 NCIT_P106 "Gene or Genome" @default.
- NCIT_C52057 NCIT_P108 "AMPH wt Allele" @default.
- NCIT_C52057 NCIT_P207 "C1706663" @default.
- NCIT_C52057 NCIT_P211 "actin cytoskeleton" @default.
- NCIT_C52057 NCIT_P211 "endocytosis" @default.
- NCIT_C52057 NCIT_P211 "synaptic transmission" @default.
- NCIT_C52057 NCIT_P211 "synaptic vesicle" @default.
- NCIT_C52057 NCIT_P321 "273" @default.
- NCIT_C52057 NCIT_P366 "AMPH_wt_Allele" @default.
- NCIT_C52057 NCIT_P96 "Amphiphysin" @default.
- NCIT_C52057 NCIT_P98 "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." @default.
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- NCIT_C52057 referenceCount "1" @default.
- NCIT_C52057 hasExactSynonym "AMPH wt Allele" @default.
- NCIT_C52057 hasExactSynonym "AMPH1" @default.
- NCIT_C52057 hasExactSynonym "Amphiphysin (Stiff-Man Syndrome with Breast Cancer 128kDa Autoantigen) wt Allele" @default.
- NCIT_C52057 hasExactSynonym "Amphiphysin Gene" @default.
- NCIT_C52057 type Class @default.
- NCIT_C52057 isDefinedBy ncit.owl @default.
- NCIT_C52057 label "AMPH wt Allele" @default.
- NCIT_C52057 subClassOf NCIT_C16612 @default.
- NCIT_C52057 subClassOf NCIT_C20194 @default.
- NCIT_C52057 subClassOf NCIT_C20714 @default.
- NCIT_C52057 subClassOf NCIT_C52057 @default.
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- NCIT_C52057 equivalentClass Bdd9f3d72f900535b62c14fc58f3fc9e9 @default.