Product Name
ABHD12, cDNA Clone
Full Product Name
ABHD12 cDNA Clone
Product Gene Name
ABHD12 cdna clone
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Sequence
atgaggaagc ggaccgagcc cgtcgccttg gagcatgagc gctgcgccgc cgcgggctcg tcctcctccg gctcggccgc cgcggcgctg gacgccgact gccgcctgaa gcagaaccta cgcctgacgg gcccggcggc ggctgagccg cgctgcgcag ccgacgcggg aatgaagcgg gcgctgggca ggcgaaaggg cgtgtggttg cgcctgagga agatactttt ctgtgttttg gggttgtaca ttgccattcc atttctcatc aaactatgtc ctggaataca ggccaaactg attttcttga atttcgtaag agttccctat ttcattgatt tgaaaaaacc acaggatcaa ggtttgaatc acacgtgtaa ctactacctg cagccagagg aagacgtgac cattggagtc tggcacaccg tccctgcagt ctggtggaag aacgcccaag gcaaagacca gatgtggtat gaggatgcct tggcttccag ccaccctatc attctgtacc tgcatgggaa cgcaggtacc agaggaggcg accaccgcgt ggagctttac aaggtgctga gttcccttgg ttaccatgtg gtcacctttg actacagagg ttggggtgac tcagtgggaa cgccatctga gcggggcatg acctatgacg cactccacgt ttttgactgg atcaaagcaa gaagtggtga caaccccgtg tacatctggg gccactctct gggcactggc gtggcgacaa atctggtgcg gcgcctctgt gagcgagaga cgcctccaga tgcccttata ttggaatctc cattcactaa tatccgtgaa gaagctaaga gccatccatt ttcagtgata tatcgatact tccctgggtt tgactggttc ttccttgatc ctattacaag tagtggaatt aaatttgcaa atgatgaaaa cgtgaagcac atctcctgtc ccctgctcat cctgcacgct gaggacgacc cggtggtgcc cttccagctt ggcagaaagc tctatagcat cgccgcacca gctcgaagct tccgagattt caaagttcag tttgtgccct ttcattcaga ccttggctac aggcacaaat acatttacaa gagccctgag ctgccacgga tactgagacc tcagcagggc ccaggttcca gcccagatcc cagcatgtgg tcagagctgg tgtga
ISO Certification
Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.
Other Notes
Small volumes of ABHD12 cdna clone vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
NCBI/Uniprot data below describe general gene information for ABHD12. It may not necessarily be applicable to this product.
NCBI Accession #
BC014049
[Other Products]
UniProt Secondary Accession #
Q5T710; Q5T711; Q96CR1; Q9BX05; Q9NPX7; Q9UFV6; A6NED4; A6NJ90; A8K450; B4DE71[Other Products]
UniProt Related Accession #
Q8N2K0[Other Products]
Molecular Weight
41,387 Da
NCBI Official Full Name
Homo sapiens abhydrolase domain containing 12, mRNA
NCBI Official Synonym Full Names
abhydrolase domain containing 12
NCBI Official Symbol
ABHD12??[Similar Products]
NCBI Official Synonym Symbols
PHARC; ABHD12A; BEM46L2; C20orf22; dJ965G21.2
??[Similar Products]
NCBI Protein Information
monoacylglycerol lipase ABHD12
UniProt Protein Name
Monoacylglycerol lipase ABHD12
UniProt Synonym Protein Names
2-arachidonoylglycerol hydrolaseCurated; Abhydrolase domain-containing protein 12Curated
Protein Family
Monoacylglycerol lipase
UniProt Gene Name
ABHD12??[Similar Products]
UniProt Entry Name
ABD12_HUMAN
NCBI Summary for ABHD12
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 Comments for ABHD12
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
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Research Articles on ABHD12
1. ABHD12 mutation in 2 PHARC (Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract)patients who suffered from deaf-blindness and dysfunctional central and peripheral nervous systems.
Precautions
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Disclaimer
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