Gene Locus : human-NLGN4X
Mode of mutation : Natural mutant
Disease : Neuroligin 4 Autism AUTSX2 Asperger syndrome ASPGX2
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : 58
Kinetic Parameter : No kinetic parameter
News : No news
Comment : p.R101Q (c.302G > A) p.Arg101Gln || the R101Q mutation in NLGN4 did not affect its binding affinity for NRXNs or its capacity to form homodimers. This mutation, however, impaired the maturation of NLGN4 protein by inhibiting N-linked glycosylation at an adjacent residue (N102), which is conserved in all NLGNs. As a result, the R101Q substitution significantly decreased the surface trafficking of NLGN4 and increased its retention in the endoplasmic reticulum and Golgi apparatus
| Title : An Autism-Associated Mutation Impairs Neuroligin-4 Glycosylation and Enhances Excitatory Synaptic Transmission in Human Neurons - Cast_2021_J.Neurosci_41_392 |
| Author(s) : Cast TP , Boesch DJ , Smyth K , Shaw AE , Ghebrial M , Chanda S |
| Ref : Journal of Neuroscience , 41 :392 , 2021 |
| Abstract : Cast_2021_J.Neurosci_41_392 |
| ESTHER : Cast_2021_J.Neurosci_41_392 |
| PubMedSearch : Cast_2021_J.Neurosci_41_392 |
| PubMedID: 33268543 |
| Gene_locus related to this paper: human-NLGN4X |
| Title : A Cluster of Autism-Associated Variants on X-Linked NLGN4X Functionally Resemble NLGN4Y - Nguyen_2020_Neuron_106_759 |
| Author(s) : Nguyen TA , Wu K , Pandey S , Lehr AW , Li Y , Bemben MA , Badger JD, 2nd , Lauzon JL , Wang T , Zaghloul KA , Thurm A , Jain M , Lu W , Roche KW |
| Ref : Neuron , 106 :759 , 2020 |
| Abstract : Nguyen_2020_Neuron_106_759 |
| ESTHER : Nguyen_2020_Neuron_106_759 |
| PubMedSearch : Nguyen_2020_Neuron_106_759 |
| PubMedID: 32243781 |
| Gene_locus related to this paper: human-NLGN4X |