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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]
[中文简述(自动翻译):]  这个基因编码催化-2-花生四烯酰甘油(2-AG),作用于大麻素受体,CB1和CB2的主要内源性大麻素的脂质发射机的水解的酶。内源性大麻素系统涉及范围广泛的生理过程,包括神经传递,情绪,食欲,疼痛升值,成瘾行为和炎症。在这种基因突变与神经变性疾病,PHARC(多发性神经病,听力丧失,共济失调,色素性视网膜炎,和白内障)相关联的,从内源性大麻素代谢的先天错误导致。另外剪接转录变体编码不同的亚型已经注意到了这个基因。[由RefSeq的,2011年1月提供]
ABHD12基因(以及对应的蛋白质)的细胞分布位置:
ABHD12基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract | 0.440271442 | 1 | 6 | BeFree_CLINVAR_CTD_human_MGD_ORPHANET |
| Alkaline Phosphatase Adverse Event | 0.002367032 | 1 | 1 | GAD |
| Cataract | 0.001085767 | 4 | 0 | BeFree |
| Neurodegenerative Disorders | 0.001085767 | 4 | 0 | BeFree |
| Polyneuropathy | 0.000814326 | 3 | 0 | BeFree |
| Ataxia | 0.000271442 | 1 | 0 | BeFree |
| Dwarfism | 0.000271442 | 1 | 0 | BeFree |
| Retinal Degeneration | 0.000271442 | 1 | 0 | BeFree |
| Usher Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Autosomal recessive retinitis pigmentosa | 0.000271442 | 1 | 0 | BeFree |
| Bilateral cataracts (disorder) | 0.000271442 | 1 | 0 | BeFree |
| Usher Syndrome, Type III | 0.000271442 | 1 | 0 | BeFree |
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