Annotated protein:Acetylcholine receptor subunit delta. Gene symbol: CHRND. Taxonomy: Homo sapiens (Human). Uniprot ID: Q07001
antibody wiki:
SynGO gene info:SynGO data @ CHRND
Ontology domain:Biological Process
SynGO term:transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential (GO:1904315)
Synapse type(s):Neuro-muscular junction
Annotated paper:Brownlow S, et al. "Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita" J Clin Invest. 2001 Jul;108(1):125-30 PMID:11435464
Figure(s):Fig.2-4
Annotation description:Fig.1: congenital myasthenic syndrome patient has a E59K mutation in the nAChR delta subunit.
Fig.2+3+4: The mutation was shown to affect channel kinetics with heterologous expression of WT and δE59K mutant receptors in HEK cells.

Note: data to support the action of this mutation in situ is not included in this paper, but the annotation to the term 'transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential (GO:1904315)' is based on the presence the myasthenic syndrome in the mutation carrier and the well established localization of the nAChR in the postsynaptic membrane of muscle fibers.
Evidence tracking, Biological System:Intact tissue
Non-neuronal tissue
Evidence tracking, Protein Targeting:Genetic transformation (eg; knockout, knockin, mutations)
Over-expression
Evidence tracking, Experiment Assay:Whole-cell patch clamp
Annotator(s):Pim van Nierop (ORCID:0000-0003-0593-3443)
Guus Smit (ORCID:0000-0002-2286-1587)
Matthijs Verhage (ORCID:0000-0002-2514-0216)
Lab:Department of Functional Genomics, Department of Molecular and Cellular Neurobiology, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, 1081 HV Amsterdam, The Netherlands
SynGO annotation ID:1982
Dataset release (version):20231201
View annotation as GO-CAM model:Gene Ontology