Aliases: DGK-IOTA
Chromosome No: 7
Chromosome Band: 7q33
Genetic Category: Genetic association-Rare single gene variant
ASD Reports: 4
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 8
Evidence score: 2
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Relevance to Autism
A maternally-inherited frameshift variant in the DGKI gene was observed in two of three ASD-affected siblings from a multiplex family from the iHART cohort (Ruzzo et al., 2019), while de novo missense variants that were predicted to be damaging were identified in this gene in two ASD probands (Satterstrom et al., 2020; More et al., 2023). This gene has previously been reported to have a possible association with susceptibility to dyslexia in Finnish and German populations (Matsson et al., 2011).
Molecular Function
This gene is a member of the type IV diacylglycerol kinase subfamily. Diacylglycerol kinases regulate the intracellular concentration of diacylglycerol through its phosphorylation, producing phosphatidic acid. The specific role of the enzyme encoded by this gene is undetermined, however, it may play a crucial role in the production of phosphatidic acid in the retina or in recessive forms of retinal degeneration.
External Links
