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 :
French candian in exon12 c1054C>T replaces Arg352 by stop codon p.Arg352*
| 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 |
| Title : PHARC Syndrome, a Rare Genetic Disorder-Case Report - |
| Author(s) : Dias Bastos PA , Mendonca M , Lampreia T , Magrico M , Oliveira J , Barbosa R |
| Ref : Movement Disordersord Clin Pract , 8 :977 , 2021 |
| PubMedID: 34405110 |
| Gene_locus related to this paper: human-ABHD12 |
| Title : Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism - Fiskerstrand_2010_Am.J.Hum.Genet_87_410 |
| Author(s) : Fiskerstrand T , H'Mida-Ben Brahim D , Johansson S , M'Zahem A , Haukanes BI , Drouot N , Zimmermann J , Cole AJ , Vedeler C , Bredrup C , Assoum M , Tazir M , Klockgether T , Hamri A , Steen VM , Boman H , Bindoff LA , Koenig M , Knappskog PM |
| Ref : American Journal of Human Genetics , 87 :410 , 2010 |
| Abstract : |
| PubMedSearch : Fiskerstrand_2010_Am.J.Hum.Genet_87_410 |
| PubMedID: 20797687 |
| Gene_locus related to this paper: human-ABHD12 |