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Abhydrolase Domain Containing Protein 12 (ABHD12)

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C20orf22; 2-arachidonoylglycerol hydrolase; Monoacylglycerol lipase ABHD12

Abhydrolase Domain Containing Protein 12 (ABHD12)
CCC Q481
HGNC 15868
MGI 1923442
PubMed 23297193
RGD 1562570
UniProt Q8N2K0
The endocannabinoid lipid transmitter 2-arachidonoyl glycerol (2-AG) acts on cannabinoid receptors CB1 (CNR1) and CB2 (CNR2) and functions in synaptic plasticity and neuroinflammation. ABHD12 inactivates 2-AG by converting it into the metabolites arachidonate and glycerol.
By searching for genes in a region of chromosome 20 associated with polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC), Fiskerstrand et al. (2010) identified ABHD12. Abdh12 was expressed at variable levels in all mouse tissues examined, with highest expression in microglia, followed by prostate and macrophages. High expression was also detected in all mouse brain regions examined.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Abhydrolase Domain Containing Protein 12 (ABHD12) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Abhydrolase Domain Containing Protein 12 (ABHD12) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Abhydrolase Domain Containing Protein 12 (ABHD12) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Abhydrolase Domain Containing Protein 12 (ABHD12) CLIA Kit Customized Service Offer
n/a ELISA Kit for Abhydrolase Domain Containing Protein 12 (ABHD12) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Abhydrolase Domain Containing Protein 12 (ABHD12) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Abhydrolase Domain Containing Protein 12 (ABHD12) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Abhydrolase Domain Containing Protein 12 (ABHD12) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Abhydrolase Domain Containing Protein 12 (ABHD12) CLIA Kit Customized Service Offer
n/a ELISA Kit for Abhydrolase Domain Containing Protein 12 (ABHD12) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Abhydrolase Domain Containing Protein 12 (ABHD12) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Abhydrolase Domain Containing Protein 12 (ABHD12) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Abhydrolase Domain Containing Protein 12 (ABHD12) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Abhydrolase Domain Containing Protein 12 (ABHD12) CLIA Kit Customized Service Offer
n/a ELISA Kit for Abhydrolase Domain Containing Protein 12 (ABHD12) ELISA Kit Customized Service Offer
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  2. "The DNA sequence and comparative analysis of human chromosome 20." Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  4. "The full-ORF clone resource of the German cDNA consortium."BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
  5. "Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism."Am. J. Hum. Genet. 87:410-417(2010) [PubMed] [Europe PMC] [Abstract]
  6. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  7. "Biochemical and pharmacological characterization of human alpha/beta-hydrolase domain containing 6 (ABHD6) and 12 (ABHD12)."J. Lipid Res. 53:2413-2424(2012) [PubMed] [Europe PMC] [Abstract]
  8. "Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3."Orphanet J. Rare Dis. 7:59-59(2012) [PubMed] [Europe PMC] [Abstract]
  9. "Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects."Hum. Mutat. 34:1672-1678(2013) [PubMed] [Europe PMC] [Abstract]