DGKK
Homo sapiens
Gene Name: diacylglycerol kinase kappa
Aliases:
Chromosome No: X
Chromosome Band: Xp11.22
Genetic Category: Functional
Aliases:
Chromosome No: X
Chromosome Band: Xp11.22
Genetic Category: Functional
Summary Statistics:
ASD Reports: 1
Recent Reports: 0
Annotated variants: 0
Associated CNVs: 10
Evidence score: null
ASD Reports: 1
Recent Reports: 0
Annotated variants: 0
Associated CNVs: 10
Evidence score: null
| Associated Disorders: |
|
Relevance to Autism
Cross-linking immunoprecipitation in murine cortical neurons found that FMRP primarily associated with DGKK, and this association positively controlled DGKK translation. shRNA-mediated knockdown of DGKK in the striatum of mice reproduced many of the phenotypes observed in mouse models of Fragile X syndrome, including reduced social interaction, altered nest building behavior, increased motor stereotypies, and hyperactivity (Tabet et al., 2016).
Molecular Function
The protein encoded by this gene is an enzyme that phosphorylates diacylglycerol, converting it to phosphatidic acid.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Fragile X Mental Retardation Protein (FMRP) controls diacylglycerol kinase activity in neurons.