DAGLA Chromosome 11
Diacylglycerol lipase alpha
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What This Gene Does
This gene encodes a diacylglycerol lipase. The encoded enzyme is involved in the biosynthesis of the endocannabinoid 2-arachidonoyl-glycerol.[provided by RefSeq, Nov 2010]
Gene Info
Gene Group
Lipases
Locus Type
gene with protein product
Location
11q12.2
Ensembl
ENSG00000134780
Associated Conditions (2)
Benign paroxysmal tonic upgaze of childhood with ataxia
See cases
Key Variants
RS2065508523
Likely pathogenic
Health Risk
RS2540756298
Pathogenic
Benign paroxysmal tonic upgaze of childhood with ataxia, Benign paroxysmal tonic upgaze of childhood with ataxia
Health Risk
RS2540756474
Pathogenic
Benign paroxysmal tonic upgaze of childhood with ataxia, Benign paroxysmal tonic upgaze of childhood with ataxia
Health Risk
RS2540756572
Pathogenic
See cases, Benign paroxysmal tonic upgaze of childhood with ataxia, See cases
Health Risk
RS998640015
Pathogenic
Benign paroxysmal tonic upgaze of childhood with ataxia, Benign paroxysmal tonic upgaze of childhood with ataxia
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2065508523 | Health Risk | Likely pathogenic | — |
| RS2540756298 | Health Risk | Pathogenic | Benign paroxysmal tonic upgaze of childhood with ataxia, Benign paroxysmal tonic upgaze of childhood with ataxia |
| RS2540756474 | Health Risk | Pathogenic | Benign paroxysmal tonic upgaze of childhood with ataxia, Benign paroxysmal tonic upgaze of childhood with ataxia |
| RS2540756572 | Health Risk | Pathogenic | See cases, Benign paroxysmal tonic upgaze of childhood with ataxia, See cases |
| RS998640015 | Health Risk | Pathogenic | Benign paroxysmal tonic upgaze of childhood with ataxia, Benign paroxysmal tonic upgaze of childhood with ataxia |