Gene_locus Report for: human-ABHD12
| human-ABHD12 | Name | Homo sapiens (Human) abhydrolase domain-containing protein 12. Protein C20orf22, flj90542, CT022, 2-arachidonoylglycerol hydrolase, Monoacylglycerol lipase |
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| Species | Homo sapiens |
| Organism | human |
| Gene_name | Abhd12 |
| | DJ965G21.2 |
| | C20ORF22 |
| | DKFZP434P106 |
| Block | X |
| Family | ABHD12-PHARC |
| Disease | PHARC Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract |
| Database (13) |
| Paper (35) |
| Comment | This 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) |
| Protein | human-ABHD12 |
| Peptide | human-ABHD12 |
| Mutation (18) |
| Inhibitor (6) |
| Substrate | Lyso-PS-(20-4) |
| | PGE2-glyceryl-ester |
| | Lysophosphatidylserine |
| | 2-Arachidonylglycerol |
| News | SEPTEMBER-01-2010 |
| Tree_node | ABHD12-PHARC19421 |
| | Hydrolase_4233621 |
| OldTrembl | A6NED4 |
| | A6NJ90 |
| | Q96CR1 |
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