Aliases: MPP6, VAM1, p55T, VAM-1
Chromosome No: 7
Chromosome Band: 7p15.3
Genetic Category: Rare single gene variant
ASD Reports: 4
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 0
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
The PALS2 gene (formerly known as MPP6) was originally identified as an ASD candidate gene based on its enrichment in an autism-associated protein interaction module; sequencing of post-mortem brain tissue from 25 ASD cases resulted in the identification of significant non-synonymous variants in this gene with an expected false-positive rate at 0.1, confirming the involvement of this module with autism (Li et al., 2014).
Molecular Function
Members of the peripheral membrane-associated guanylate kinase (MAGUK) family function in tumor suppression and receptor clustering by forming multiprotein complexes containing distinct sets of transmembrane, cytoskeletal, and cytoplasmic signaling proteins. All MAGUKs contain a PDZ-SH3-GUK core and are divided into 4 subfamilies: DLG-like, ZO1-like, p55-like, and LIN2-like, based on their size and the presence of additional domains. MPP6 is a member of the p55-like MAGUK subfamily.
External Links
