R101Q_human-NLGN4X

General

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

References (2)

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
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
PubMedID: 32243781
Gene_locus related to this paper: human-NLGN4X