Relevance to Autism

The PLAUR promoter variant rs344781 T allele was associated with ASD by both family-based association tests (P=0.006) and case-control analyses (P=0.007) in an association study of genes encoding proteins that regulate MET expression and activity in 664 families (2,712 individuals including 1,228 with ASD) and 312 unrelated controls (Campbell et al., 2008).

Molecular Function

This gene encodes the receptor for urokinase plasminogen activator and, given its role in localizing and promoting plasmin formation, likely influences many normal and pathological processes related to cell-surface plasminogen activation and localized degradation of the extracellular matrix. PLAUR is expressed in neurons of the rolandic area of the brain (at protein level).

External Links

References

Model Summary

Alteration of development of cortical interneurons in a region- and cell subtype-specific manner, with deficits leading to long-lasting changes in circuit organization and behavior.

References