Relevance to Autism

A de novo deletion involving the GPHN gene was identified in an ASD case from a simplex family (Prasad et al., 2012). Screening of 8775 cases with ASD, schizophrenia, or epilepsy and 27,019 controls for GPHN deletions determined that experimentally validated deletions in GPHN were significantly greater in cases than in controls (6/8,775 vs. 3/27,019; Fisher's exact two-sided P=0.009); three of the cases with GPHN deletions in this study were diagnosed with ASD (Lionel et al., 2013).

Molecular Function

This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. In nonneuronal tissues, the encoded protein is also required for molybdenum cofactor biosynthesis. Mutations in this gene may be associated with the neurological condition hyperplexia and also lead to molybdenum cofactor deficiency.

External Links

References