Human Gene ABHD12 (ENST00000339157.10) from GENCODE V44
Description: Homo sapiens abhydrolase domain containing 12, lysophospholipase (ABHD12), transcript variant 1, mRNA. (from RefSeq NM_001042472) RefSeq Summary (NM_001042472): This gene encodes an enzyme that catalyzes the hydrolysis of 2-arachidonoyl glycerol (2-AG), the main endocannabinoid lipid transmitter that acts on cannabinoid receptors, CB1 and CB2. The endocannabinoid system is involved in a wide range of physiological processes, including neurotransmission, mood, appetite, pain appreciation, addiction behavior, and inflammation. Mutations in this gene are associated with the neurodegenerative disease, PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract), resulting from an inborn error of endocannabinoid metabolism. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jan 2011]. Gencode Transcript: ENST00000339157.10 Gencode Gene: ENSG00000100997.20 Transcript (Including UTRs) Position: hg38 chr20:25,300,214-25,390,835 Size: 90,622 Total Exon Count: 13 Strand: - Coding Region Position: hg38 chr20:25,300,845-25,390,703 Size: 89,859 Coding Exon Count: 13
ID:ABD12_HUMAN DESCRIPTION: RecName: Full=Monoacylglycerol lipase ABHD12; EC=3.1.1.23; AltName: Full=2-arachidonoylglycerol hydrolase; AltName: Full=Abhydrolase domain-containing protein 12; FUNCTION: Has 2-arachidonoylglycerol hydrolase activity (By similarity). May be a regulator of endocannabinoid signaling pathways (By similarity). CATALYTIC ACTIVITY: Hydrolyzes glycerol monoesters of long-chain fatty acids. SUBCELLULAR LOCATION: Membrane; Single-pass membrane protein (By similarity). PTM: Glycosylated (By similarity). DISEASE: Defects in ABHD12 are the cause of polyneuropathy hearing loss ataxia retinitis pigmentosa and cataract (PHARC) [MIM:612674]. PHARC is a slowly progressive neurologic disorder with a variable phenotype resembling Refsum disease. Clinical features include sensorineural hearing loss, visual problems related to cataracts, retinitis pigmentosa, pes cavus, ataxic and/or spastic gait disturbances with a progressive sensorimotor peripheral neuropathy. Other features include hyporeflexia, hyperreflexia, extensor plantar responses. SIMILARITY: Belongs to the serine esterase family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q8N2K0
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0002084 protein depalmitoylation GO:0006660 phosphatidylserine catabolic process GO:0007628 adult walking behavior GO:0010996 response to auditory stimulus GO:0046464 acylglycerol catabolic process GO:0046475 glycerophospholipid catabolic process GO:0052651 monoacylglycerol catabolic process
US Server
