Loss of SLM2 (as known as KHDRBS3) was found to severely disrupt the alternative splicing regulation of NRXN1, NRXN2, and NRXN3 in mice (Traunmller et al., 2014). In a subsequent study (Traunmller et al., 2016), SLM2 was found to be essential for functional specification of glutamatergic synapses in the mouse hippocampus via a SLM2-dependent splicing program primarily consisting of only a few target messenger RNAs that encode synaptic proteins. Furthermore, genetic correction of a single SLM2-dependent target exon in NRXN1 was sufficient to rescue synaptic plasticity and behavioral defects in SLM2 knockout mice.
Molecular Function
This gene encodes an RNA-binding protein that plays a role in the regulation of alternative splicing and influences mRNA splice site selection and exon inclusion.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Alternative splicing coupled nonsense-mediated decay generates neuronal cell type-specific expression of SLM proteins.
