Gene_Locus Report

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Gene_locus Report for: human-ABHD12

Name Class
human-ABHD12NameHomo sapiens (Human) abhydrolase domain-containing protein 12. Protein C20orf22, flj90542, CT022, 2-arachidonoylglycerol hydrolase, Monoacylglycerol lipase
SpeciesHomo sapiens
Organismhuman
Gene_nameAbhd12
DJ965G21.2
C20ORF22
DKFZP434P106
BlockX
FamilyABHD12-PHARC
DiseasePHARC Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Database (13)
Paper (36)
CommentThis gene is mutated in Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) disease. is a neurodegenerative disease. Patients present early-onset cataract and hearing loss, retinitis pigmentosa. Both the central and peripheral nervous systems are affected. Other features are demyelinating sensorimotor polyneuropathy and cerebellar ataxia. Fiskerstrand et al. identified the disease in a norwegian family. Mutations in ABHD12 cause the PHARC. Polyneuropathy and ataxia can be mild and symptomes can be close to those of Usher syndrome type 3 as shown by Eisenberg et al. . 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)
Proteinhuman-ABHD12
Peptidehuman-ABHD12
Mutation (18)
Inhibitor (6)
SubstrateLyso-PS-(20-4)
PGE2-glyceryl-ester
Lysophosphatidylserine
2-Arachidonylglycerol
NewsSEPTEMBER-01-2010
Tree_nodeABHD12-PHARC19310
Hydrolase_4233954
OldTrembl (3)

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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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