Aliases: UNQ3116/PRO10200, LIN-7B, MALS-2, MALS2, VELI2
Chromosome No: 19
Chromosome Band: 19q13.33
Genetic Category: Multigenic CNV/rare single gene variant-Rare single gene variant
ASD Reports: 3
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 2
Evidence score: 2
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Relevance to Autism
Two variants affecting LIN7B (a de novo multigenic duplication and a novel frameshift variant) were identified in unrelated ASD patients. Acute knockdown of Lin-7B in mice brains led to abnormal neuronal migration during corticogenesis, and while wild-type hLin-7B was able to rescue this phenotype, hLin-7B with the aforementioned ASD-associated frameshift variant failed to do so (Mizuno et al., 2014).
Molecular Function
Plays a role in establishing and maintaining the asymmetric distribution of channels and receptors at the plasma membrane of polarized cells. Forms membrane-associated multiprotein complexes that may regulate delivery and recycling of proteins to the correct membrane domains. The tripartite complex composed of LIN7 (LIN7A, LIN7B or LIN7C), CASK and APBA1 may have the potential to couple synaptic vesicle exocytosis to cell adhesion in brain. Ensures the proper localization of GRIN2B (subunit 2B of the NMDA receptor) to neuronal postsynaptic density and may function in localizing synaptic vesicles at synapses where it is recruited by beta-catenin and cadherin. Required to localize Kir2 channels, GABA transporter (SLC6A12) and EGFR/ERBB1, ERBB2, ERBB3 and ERBB4 to the basolateral membrane of epithelial cells.
External Links
