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 :
p.Arg355X c.1063 C>T
| Title : Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants - Long_2024_BMC.Med.Genomics_17_203 |
| Author(s) : Long X , Xiong W , Wang X , Geng J , Zhong M , Huang Y , Liu M , Bu F , Cheng J , Lu Y , Yuan H |
| Ref : BMC Med Genomics , 17 :203 , 2024 |
| Abstract : |
| PubMedSearch : Long_2024_BMC.Med.Genomics_17_203 |
| PubMedID: 39123271 |
| Gene_locus related to this paper: human-ABHD12 |
| 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 : Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome - Igelman_2021_Ophthalmic.Genet_42_664 |
| Author(s) : Igelman AD , Ku C , da Palma MM , Georgiou M , Schiff ER , Lam BL , Sankila EM , Ahn J , Pyers L , Vincent A , Ferraz Sallum JM , Zein WM , Oh JK , Maldonado RS , Ryu J , Tsang SH , Gorin MB , Webster AR , Michaelides M , Yang P , Pennesi ME |
| Ref : Ophthalmic Genet , 42 :664 , 2021 |
| Abstract : |
| PubMedSearch : Igelman_2021_Ophthalmic.Genet_42_664 |
| PubMedID: 34223797 |
| Gene_locus related to this paper: human-ABHD12 |