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 : Missense Homozygous p.T253R c.758G>C Exon 8, characterized in ABHD12 from a young patient with PHARC disease
| Title : Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC - Tingaud-Sequeira_2017_Neurobiol.Dis_98_36 |
| Author(s) : Tingaud-Sequeira A , Raldua D , Lavie J , Mathieu G , Bordier M , Knoll-Gellida A , Rambeau P , Coupry I , Andre M , Malm E , Moller C , Andreasson S , Rendtorff ND , Tranebjaerg L , Koenig M , Lacombe D , Goizet C , Babin PJ |
| Ref : Neurobiol Dis , 98 :36 , 2017 |
| Abstract : Tingaud-Sequeira_2017_Neurobiol.Dis_98_36 |
| ESTHER : Tingaud-Sequeira_2017_Neurobiol.Dis_98_36 |
| PubMedSearch : Tingaud-Sequeira_2017_Neurobiol.Dis_98_36 |
| PubMedID: 27890673 |
| Gene_locus related to this paper: human-ABHD12 |