Human Gene Set: HP_ANTI_ACETYLCHOLINE_RECEPTOR_ANTIBODY_POSITIVITY


Standard name HP_ANTI_ACETYLCHOLINE_RECEPTOR_ANTIBODY_POSITIVITY
Systematic name M47244
Brief description Anti-acetylcholine receptor antibody positivity
Full description or abstract The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside-monosialic acid (GM1), which is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury. [HPO_CONTRIBUTOR:UK_rheller]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0030208
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0030208
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Source species Homo sapiens
Contributed by Human Phenotype Ontology Group (The Jackson Laboratory (JAX))
Source platform or
identifier namespace		 Human_NCBI_Gene_ID
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Version history 2024.1.Hs: Updated to HPO Release 2024-04-26.

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