catalog number :
MBS426264
products full name :
ABHD12 Immunizing Peptide
products short name :
ABHD12
products name syn :
ABHD12; abhydrolase domain containing 12; ABHD12A; BEM46L2; C20orf22; DKFZP434P106; dJ965G21.2; ABHD12
other names :
monoacylglycerol lipase ABHD12 isoform a; Monoacylglycerol lipase ABHD12; monoacylglycerol lipase ABHD12; abhydrolase domain containing 12; 2-arachidonoylglycerol hydrolaseCurated; Abhydrolase domain-containing protein 12Curated
products gene name :
ABHD12
other gene names :
ABHD12; ABHD12; PHARC; ABHD12A; BEM46L2; C20orf22; dJ965G21.2
uniprot entry name :
ABD12_HUMAN
reactivity :
Human, Mouse, Rat
sequence :
C-REFLGKSEPEHQH
form :
100ug of dried peptide
storage stability :
Shipped at ambient temperature, store at -20 degree C
ncbi acc num :
NP_001035937.1
ncbi gb acc num :
NM_001042472.2
ncbi mol weight :
41,387 Da
ncbi pathways :
Arachidonate Production From DAG Pathway (1269364); Effects Of PIP2 Hydrolysis Pathway (1269363); G Alpha (q) Signalling Events Pathway (1269578); GPCR Downstream Signaling Pathway (1269574); Gastrin-CREB Signalling Pathway Via PKC And MAPK (1269592); Hemostasis Pathway (1269340); Platelet Activation, Signaling And Aggregation Pathway (1269350); Signal Transduction Pathway (1269379); Signaling By GPCR Pathway (1269543); Triacylglycerol Degradation Pathway (142418)
ncbi summary :
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]
uniprot summary :
ABHD12: Has 2-arachidonoylglycerol hydrolase activity. May be a regulator of endocannabinoid signaling pathways. Defects in ABHD12 are the cause of polyneuropathy hearing loss ataxia retinitis pigmentosa and cataract (PHARC). 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. Belongs to the serine esterase family. 3 isoforms of the human protein are produced by alternative splicing. Protein type: EC 3.1.1.23; Hydrolase; Membrane protein, integral. Chromosomal Location of Human Ortholog: 20p11.21. Cellular Component: integral to membrane; plasma membrane. Molecular Function: acylglycerol lipase activity. Biological Process: acylglycerol catabolic process; adult walking behavior; phosphatidylserine catabolic process. Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract