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Family Report for: ABHD12-PHARC

ABHD12-PHARC



Relationship
Block X
Parent Family : Hydrolase_4

Comment
Monoacylglycerol lipase protein ABHD12 (also known as the abhydrolase domain-containing protein 12) has 2-arachidonoylglycerol hydrolase activity (Blankman et al. 2007). In humans, defects in ABHD12 are the cause of polyneuropathy hearing loss ataxia retinitis pigmentosa and cataract (PHARC). PHARC is a slowly progressive neurologic disorder (Fiskerstrand 2010). ABHD12 is a major very long chain lyso-PS lipase in primary mast cells. long-chain lyso-PSs induce secretion of pro-inflammatory cytokines in macrophage signaling and mast cell degranulation (Khandelwal 2021). Substrates include: 2-arachidonoylglycerol, 1(3)-isomer of arachidonoylglycerol, unsaturated C20:4 monoacylglycerols, lysophosphatidylserine lipids
1 Disease(s)


Database
Sequences
Interpro
|
IPR026605 (Monoacylglycerol lipase protein ABHD12)
PIRSF
|
Pdoc
|
PFam
|
Prints
|
Prosite
|
no EC number



Peptide in
|Fasta
Nucleotide in
|Fasta
Alignment with Multalin
|Text only/graphic display
Seed alignment with MAFFT
|No colour/coloured with Mview
Alignment with MAFFT
|No colour/coloured with Mview
Dendrogram
|Graphical display, obtained with the dnd file produced by Clustalw

References
6 more
    Title: Fatty acid chain length drives lysophosphatidylserine-dependent immunological outputs
    Khandelwal N, Shaikh M, Mhetre A, Singh S, Sajeevan T, Joshi A, Balaji KN, Chakrapani H, Kamat SS
    Ref: Cell Chemical Biology, :, 2021 : PubMed

            

    Title: Structural properties and role of the endocannabinoid lipases ABHD6 and ABHD12 in lipid signalling and disease
    Kind L, Kursula P
    Ref: Amino Acids, 51:151, 2018 : PubMed

            

    Title: A comprehensive profile of brain enzymes that hydrolyze the endocannabinoid 2-arachidonoylglycerol
    Blankman JL, Simon GM, Cravatt BF
    Ref: Chemical Biology, 14:1347, 2007 : PubMed

            

Other Papers


No structure scheme yet for this family

No Structure yet in this family

Genes Proteins in ABHD12-PHARC family (197)

Fragments of genes in ABHD12-PHARC family (42)

Substrates of some enzymes in the ABHD12-PHARC family (4)

Inhibitors of some enzymes in the ABHD12-PHARC family (5)



Send your questions or comments to :
Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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