ABHD12 Antibody

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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HGNC: 15868

OMIM: 612674

KEGG: hsa:26090

STRING: 9606.ENSP00000365725

UniGene: Hs.441550