Relevance to Autism

A de novo missense variant in the PLCD4 gene was identified in an ASD proband from the Autism Sequencing Consortium in De Rubeis et al., 2014, while a de novo frameshift variant in this gene was identified in an ASD proband from the Simons Simplex Collection in Iossifov et al., 2014. TADA analysis of 4,504 ASD trios and 3,012 unaffected control/siblings trios from trio-based exome/genome sequencing studies identified PLCD4 as an ASD candidate gene with a q-value < 0.1 (Du et al., 2019).

Molecular Function

This gene encodes a member of the delta class of phospholipase C enzymes. Phospholipase C enzymes play a critical role in many cellular processes by hydrolyzing phosphatidylinositol 4,5-bisphosphate into two intracellular second messengers, inositol 1,4,5-trisphosphate and diacylglycerol.

External Links

References