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 : Targeted comparative genomic hybridization detected a 59-kb deletion that encompasses exon 1 of ABHD12 and exons 1-4 of an adjacent gene, GINS1, and includes the promoters of both genes.
| Title : Two Novel Mutations in ABHD12: Expansion of the Mutation Spectrum in PHARC and Assessment of Their Functional Effects - Chen_2013_Hum.Mutat_34_1672 |
| Author(s) : Chen DH , Naydenov A , Blankman JL , Mefford HC , Davis M , Sul Y , Barloon AS , Bonkowski E , Wolff J , Matsushita M , Smith C , Cravatt BF , Mackie K , Raskind WH , Stella N , Bird TD |
| Ref : Hum Mutat , 34 :1672 , 2013 |
| Abstract : Chen_2013_Hum.Mutat_34_1672 |
| ESTHER : Chen_2013_Hum.Mutat_34_1672 |
| PubMedSearch : Chen_2013_Hum.Mutat_34_1672 |
| PubMedID: 24027063 |
| Gene_locus related to this paper: human-ABHD12 |