ABHD12 - Monoacylglycerol lipase ABHD12 - human protein (Function)
 
Home Recent activites arrow-down favorite My favorites arrow-down favorite My labels arrow-down Downloads
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
extend overview
1 25 3
GENE REF ISO

Function

 show evidences
Overview 
Lysophosphatidylserine (LPS) lipase that plays a key role in the central nervous system. Represents a major LPS lipase in the brain (By similarity). May also have a 2-arachidonoylglycerol (2-AG) hydrolase activity and act as a regulator of endocannabinoid signaling pathways.  
4
  • UniProtKB
GO molecular function 
Acylglycerol lipase activitydefinition[GO:0047372]  
1
  • UniProtKB
GO biological process 
Acylglycerol catabolic processdefinition[GO:0046464]  
1
  • UniProtKB
Adult walking behaviordefinition[GO:0007628] silver  
1
  • Ortholog Compara
Phosphatidylserine catabolic processdefinition[GO:0006660] silver  
1
  • Ortholog Compara
Response to auditory stimulusdefinition[GO:0010996] silver  
1
  • Ortholog 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.  
2
  • UniProtKB
 
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).  
2
  • UniProtKB
 

Biophysicochemical properties

Kinetic parameters
KM 117 uM for 2-arachidonoyglycerol
Vmax 42 nmol/min/mg enzyme toward 2-arachidonoyglycerol
Dependence
pH Optimum pH is 7.2-9 with 2-arachidonoyglycerol as substrate.

Keywords

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

Further external links

GenomeRNAi: 26090
PRO: PR:Q8N2K0