ABHD12 - Monoacylglycerol lipase ABHD12 - human protein (Function)
 
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Protein
Gene
References

 
ABHD12 »  Monoacylglycerol lipase ABHD12   [ EC 3.1.1.23 ]
 
Protein also known as:  Abhydrolase domain-containing protein 12.
Gene name:  ABHD12
Family name: Serine esterase
Entry whose protein(s) existence is based on evidence at protein level
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GENE REF ISO

Function

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Overview 
Lysophosphatidylserine (LPS) lipase, that plays a key role in the central nervous system. Represents a major LPS lipase in the brain. Has 2-arachidonoylglycerol (2-AG) hydrolase activity. May act as a regulator of endocannabinoid signaling pathways.  
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  • CuratedUniProtKB
GO molecular function 
Acylglycerol lipase activitydefinition[GO:0047372]  
  • IEAEC 2 GO
GO biological process 
Adult walking behaviordefinition[GO:0007628] silver  
  • IEAOrtholog Compara
Phosphatidylserine catabolic processdefinition[GO:0006660] silver  
  • IEAOrtholog Compara
Response to auditory stimulusdefinition[GO:0010996] silver  
  • IEAOrtholog Compara
Enzymatic activity 
This protein acts as an enzyme. It is known to catalyze the following reaction
EC 3.1.1.23: Hydrolyzes glycerol monoesters of long-chain fatty acids.  
  • CuratedUniProtKB
 
More information is available from:
Caution 
A family suffering from Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) was initially clinically diagnosed with Usher syndrome type 3. Reexamination of one affected member of this family revealed ataxia but not polyneuropathy, demonstrating the phenotypic heterogeneity in PHARC and the need for careful neurological assessments to distinguish this disease from other neuropathic disorders (PubMed22938382).  
1
  • CuratedUniProtKB
 

Keywords

Molecular function 
Hydrolase  definition   [KW-0378]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

GenomeRNAi: 26090
PRO: PR:Q8N2K0