Gene Locus : human-ABHD12
Mode of mutation : Natural mutant
Disease : PHARC Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
Nonsense Heterozygous p.Trp159* c.477G>A Exon 4
| Title : The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective - Nguyen_2021_Genes.(Basel)_12_1404 |
| Author(s) : Nguyen XT , Almushattat H , Strubbe I , Georgiou M , Li CHZ , van Schooneveld MJ , Joniau I , De Baere E , Florijn RJ , Bergen AA , Hoyng CB , Michaelides M , Leroy BP , Boon CJF |
| Ref : Genes (Basel) , 12 :1404 , 2021 |
| Abstract : |
| PubMedSearch : Nguyen_2021_Genes.(Basel)_12_1404 |
| PubMedID: 34573385 |
| Gene_locus related to this paper: human-ABHD12 |
| Title : Comprehensive Molecular Screening in Chinese Usher Syndrome Patients - Sun_2018_Invest.Ophthalmol.Vis.Sci_59_1229 |
| Author(s) : Sun T , Xu K , Ren Y , Xie Y , Zhang X , Tian L , Li Y |
| Ref : Invest Ophthalmol Vis Sci , 59 :1229 , 2018 |
| Abstract : |
| PubMedSearch : Sun_2018_Invest.Ophthalmol.Vis.Sci_59_1229 |
| PubMedID: 29625443 |
| Gene_locus related to this paper: human-ABHD12 |
| Title : Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration - Nishiguchi_2014_Ophthalmology_121_1620 |
| Author(s) : Nishiguchi KM , Avila-Fernandez A , van Huet RA , Corton M , Perez-Carro R , Martin-Garrido E , Lopez-Molina MI , Blanco-Kelly F , Hoefsloot LH , van Zelst-Stams WA , Garcia-Ruiz PJ , Del Val J , Di Gioia SA , Klevering BJ , van de Warrenburg BP , Vazquez C , Cremers FP , Garcia-Sandoval B , Hoyng CB , Collin RW , Rivolta C , Ayuso C |
| Ref : Ophthalmology , 121 :1620 , 2014 |
| Abstract : |
| PubMedSearch : Nishiguchi_2014_Ophthalmology_121_1620 |
| PubMedID: 24697911 |
| Gene_locus related to this paper: human-ABHD12 |