ABHD12 Antibody

Code CSB-PA000790
Size US$100
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  • Western Blot analysis of COLO205 cells using ABHD12 Polyclonal Antibody
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Product Details

Uniprot No.
Target Names
ABHD12
Alternative Names
2-arachidonoylglycerol hydrolase antibody; 6330583M11Rik antibody; ABD12_HUMAN antibody; ABHD12 antibody; ABHD12A antibody; Abhydrolase domain containing protein 12 antibody; Abhydrolase domain-containing protein 12 antibody; AI431047 antibody; AW547313 antibody; BEM46L2 antibody; C20orf22 antibody; Monoacylglycerol lipase ABHD12 antibody; RP23-241M12.2 antibody
Raised in
Rabbit
Species Reactivity
Human,Mouse,Rat
Immunogen
Synthesized peptide derived from the Internal region of Human ABHD12.
Immunogen Species
Homo sapiens (Human)
Conjugate
Non-conjugated
Isotype
IgG
Purification Method
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Concentration
It differs from different batches. Please contact us to confirm it.
Buffer
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Form
Liquid
Tested Applications
WB, IHC, ELISA
Recommended Dilution
Application Recommended Dilution
WB 1:500-1:2000
IHC 1:100-1:300
ELISA 1:40000
Troubleshooting and FAQs
Storage
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

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Target Background

Function
Lysophosphatidylserine (LPS) lipase that mediates the hydrolysis of lysophosphatidylserine, a class of signaling lipids that regulates immunological and neurological processes. Represents a major lysophosphatidylserine lipase in the brain, thereby playing a key role in the central nervous system. Also able to hydrolyze oxidized phosphatidylserine; oxidized phosphatidylserine is produced in response to severe inflammatory stress and constitutes a proapoptotic 'eat me' signal. Also has monoacylglycerol (MAG) lipase activity: hydrolyzes 2-arachidonoylglycerol (2-AG), thereby acting as a regulator of endocannabinoid signaling pathways. Has a strong preference for very-long-chain lipid substrates; substrate specificity is likely due to improved catalysis and not improved substrate binding.
Gene References into Functions
  1. This study presented the various mutation of ABHD12 responsible for PHARC syndrome. PMID: 28448692
  2. Study identified a new missense mutation, p.T253R, in ABHD12, which is functionally linked to the neurodegenerative disease PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and early-onset cataract), as demonstrated by its deactivation of monoacylglycerol lipase activity and inability to rescue zebrafish abhd12 knockdown phenotypes. PMID: 27890673
  3. 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. PMID: 25743180
  4. Null mutations in the ABHD12 gene lead to PHARC syndrome, a neurodegenerative disease including polyneuropathy, hearing loss, cerebellar ataxia, RP, and early-onset cataract. Our study allowed us to report 5 new mutations in ABHD12. PMID: 24697911
  5. This is the first report of compound heterozygosity in PHARC and the first study to describe how a mutation might affect ABHD12 expression and function. PMID: 24027063
  6. ABHD12 mutations are not a frequent cause of ataxia at least in Southern Italy PMID: 23490117
  7. After the identification of the ABHD12 mutation in this family, one patient underwent neurological examination which revealed ataxia, but no polyneuropathy PMID: 22938382
  8. Data show that the three hydrolases are genuine MAG lipases; medium-chain saturated MAGs were the best substrates for hABHD6 and hMAGL, whereas hABHD12 preferred the 1 (3)- and 2-isomers of arachidonoylglycerol. PMID: 22969151
  9. Mutations in the ABHD12 gene cause polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract disease. PMID: 20797687

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Involvement in disease
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC)
Subcellular Location
Endoplasmic reticulum membrane; Single-pass membrane protein.
Protein Families
Serine esterase family
Database Links

HGNC: 15868

OMIM: 612674

KEGG: hsa:26090

STRING: 9606.ENSP00000365725

UniGene: Hs.441550

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