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DAGLA

Chr 11q12.2

diacylglycerol lipase alpha

Aliases:
KIAA0659, NSDDR, DAGLALPHA
MANE:
ENST00000257215.10
OMIM: 614015 ↗NCBI: 747 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Ataxia and cerebellar anomalies - narrow panel

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Hereditary ataxia

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Infantile nystagmus

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • benign paroxysmal tonic upgaze of childhood with ataxia

    0.63

  • cerebellar ataxia

    0.47

  • Ataxia

    0.47

  • Abnormality of the skeletal system

    0.39

  • Intellectual disability

    0.37

  • congenital nystagmus

    0.37

  • hereditary disease

    0.34

  • autosomal dominant cerebellar ataxia

    0.27

  • muscular disease

    0.27

  • major depressive disorder

    0.25

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Diacylglycerol lipase-alpha

Serine hydrolase that hydrolyzes arachidonic acid-esterified diacylglycerols (DAGs) to produce the principal endocannabinoid, 2-arachidonoylglycerol (2-AG) (PubMed:14610053, PubMed:23502535, PubMed:26668358). Preferentially hydrolyzes sn-1 fatty acids from diacylglycerols (DAG) that contain arachidonic acid (AA) esterified at the sn-2 position to biosynthesize 2-AG (PubMed:14610053, PubMed:23502535, PubMed:26668358). Has negligible activity against other lipids including monoacylglycerols and phospholipids (PubMed:14610053). Plays a key role in regulating 2-AG signaling in the central nervous system (CNS). Regulates 2-AG involved in retrograde suppression at central synapses. Supports axonal growth during development and adult neurogenesis. Plays a role for eCB signaling in the physiological regulation of anxiety and depressive behaviors. Also regulates neuroinflammatory responses in the brain, in particular, LPS-induced microglial activation (By similarity)

Diseases associated with DAGLA

Curated MONDO disease pages that list DAGLA among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.