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ABHD12 cdna clone

Scan QR to view Datasheet Catalog #    MBS1276747 ABHD12 cdna clone
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 Go to:   rightarrow  Product Names   rightarrow Product Info   rightarrow Accession #s   rightarrow Product Desc   rightarrow Diseases/Tissues/Pathways   rightarrow Applications   rightarrow References 
 Product Name   

ABHD12, cDNA Clone

 Also Known As   

ABHD12 cDNA Clone

 Product Gene Name   

ABHD12 cdna clone

[Similar Products]
 Research Use Only    For Research Use Only. Not for use in diagnostic procedures.
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 Molecular Biology Protocol    Molecular Biology Protocol
 Frequently Asked Questions    Frequently Asked Questions
 Sequence    Please Inquire
 OMIM    612674
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 Vector    Please Inquire
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 ISO Certification    Manufactured in an ISO 9001:2008 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.
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NCBI/Uniprot data below describe general gene information for ABHD12. It may not necessarily be applicable to this product.
 NCBI GI #    33988044
 NCBI GeneID    26090
 NCBI Accession #    BC014049 [Other Products]
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 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
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 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
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 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]
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 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; 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
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 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.
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 Precautions    All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
 Disclaimer    While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.

It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
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Pathways associated with ABHD12 cdna cloneDiseases associated with ABHD12 cdna clone
 Products by Pathway  Pathway Diagram
 Triacylglycerol Degradation Pathway antibodies  Triacylglycerol Degradation Pathway Diagram
 Disease Name  Pubmed Publications
 Inflammation Antibodies  >3 publications with ABHD12 and Inflammation
 Disease Models, Animal Antibodies  >1 publications with ABHD12 and Disease Models, Animal
 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract Antibodies  >1 publications with ABHD12 and Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Organs/Tissues associated with ABHD12 cdna clone
 Organ/Tissue Name  Pubmed Publications
 Brain Antibodies  >7 publications with ABHD12 and Brain
 Liver Antibodies  >1 publications with ABHD12 and Liver
 Blood Antibodies  >1 publications with ABHD12 and Blood
 Eye Antibodies  >1 publications with ABHD12 and Eye
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