DGKZ Chromosome 11
Diacylglycerol kinase zeta
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What This Gene Does
The protein encoded by this gene belongs to the eukaryotic diacylglycerol kinase family. It may attenuate protein kinase C activity by regulating diacylglycerol levels in intracellular signaling cascade and signal transduction. Alternative splicing occurs at this locus and multiple transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Nov 2010]
Gene Info
Gene Group
"Ankyrin repeat domain containing|Diacylglycerol kinases|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
11p11.2
Ensembl
ENSG00000149091
Associated Conditions (1)
atypical cerebral palsy
Key Variants
RS369196316
Conflicting classifications of pathogenicity
Health Risk
RS375789274
Conflicting classifications of pathogenicity
Health Risk
RS558925508
Conflicting classifications of pathogenicity
Health Risk
RS76583617
Conflicting classifications of pathogenicity
atypical cerebral palsy, atypical cerebral palsy
Health Risk
RS78818764
Conflicting classifications of pathogenicity
Health Risk
RS770590945
Pathogenic
atypical cerebral palsy, atypical cerebral palsy
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS369196316 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS375789274 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS558925508 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS76583617 | Health Risk | Conflicting classifications of pathogenicity | atypical cerebral palsy, atypical cerebral palsy |
| RS78818764 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS770590945 | Health Risk | Pathogenic | atypical cerebral palsy, atypical cerebral palsy |