background:
Members of the AB hydrolase superfamily have diverse catalytic functions and play a crucial role in the metabolism of lipids. DAGLAlpha (diacylglycerol lipase alpha), also known as NSDDR or C11orf11, is a 1,042 amino acid multi-pass membrane protein that belongs to the AB hydrolase superfamily. Highly expressed in brain and pancreas, DAGL?uses calcium as a cofactor to catalyze the hydrolysis of diacylglycerol (DAG) to 2-arachidonoyl-glycerol (2-AG), a reaction that is required for axonal growth and for retrograde synaptic signaling at mature synapses. DAGLAlpha functions as at optimal pH of 7 and its activity is inhibited by p-hydroxy-mercuri-benzoate and HgCl2. The gene encoding DAGLAlpha maps to human chromosome 11, which houses over 1,400 genes and comprises nearly 4% of the human genome.
Function:
Catalyzes the hydrolysis of diacylglycerol (DAG) to 2-arachidonoyl-glycerol (2-AG), the most abundant endocannabinoid in tissues. Required for axonal growth during development and for retrograde synaptic signaling at mature synapses.
Subcellular Location:
Cell membrane; Multi-pass membrane protein.
Tissue Specificity:
Highly expressed in brain and pancreas.
DISEASE:
Defects in DAGLA may be a cause of spinocerebellar ataxia type 20 (SCA20) [MIM:608687]. Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA20 is an autosomal dominant, adult-onset form characterized by dysarthria due to spasmodic dysphonia followed by slowly progressive ataxia. Note=A copy number variation consisting of a 260-kb duplication at chromosome 11q12.2-12.3 is responsible for SCA20. The critical gene within the duplicated segment may be DAGLA.
Similarity:
Belongs to the AB hydrolase superfamily. Lipase family.
Database links:
Entrez Gene: 747 Human
Entrez Gene: 269060 Mouse
Entrez Gene: 309207 Rat
SwissProt: Q9Y4D2 Human
SwissProt: Q6WQJ1 Mouse
SwissProt: Q5YLM1 Rat
Unigene: 241564 Human
Unigene: 329718 Mouse
Unigene: 124941 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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