Gene Locus : human-SERAC1
Mode of mutation : Natural mutant
Disease : MEGDEL syndrome
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 : Homozygous 3-bp deletion (1435_1437delCTT) in the SERAC1 gene, resulting in an in-frame deletion of a single amino acid in the highly conserved lipase domain. The patient was originally reported as patient 4 by Wortmann et al. (2006)
| Title : Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness - Wortmann_2012_Nat.Genet_44_797 |
| Author(s) : Wortmann SB , Vaz FM , Gardeitchik T , Vissers LE , Renkema GH , Schuurs-Hoeijmakers JH , Kulik W , Lammens M , Christin C , Kluijtmans LA , Rodenburg RJ , Nijtmans LG , Grunewald A , Klein C , Gerhold JM , Kozicz T , van Hasselt PM , Harakalova M , Kloosterman W , Baric I , Pronicka E , Ucar SK , Naess K , Singhal KK , Krumina Z , Gilissen C , van Bokhoven H , Veltman JA , Smeitink JA , Lefeber DJ , Spelbrink JN , Wevers RA , Morava E , de Brouwer AP |
| Ref : Nat Genet , 44 :797 , 2012 |
| Abstract : Wortmann_2012_Nat.Genet_44_797 |
| ESTHER : Wortmann_2012_Nat.Genet_44_797 |
| PubMedSearch : Wortmann_2012_Nat.Genet_44_797 |
| PubMedID: 22683713 |
| Gene_locus related to this paper: human-SERAC1 |
| Title : Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation - Wortmann_2006_Mol.Genet.Metab_88_47 |
| Author(s) : Wortmann S , Rodenburg RJ , Huizing M , Loupatty FJ , de Koning T , Kluijtmans LA , Engelke U , Wevers R , Smeitink JA , Morava E |
| Ref : Mol Genet Metab , 88 :47 , 2006 |
| Abstract : Wortmann_2006_Mol.Genet.Metab_88_47 |
| ESTHER : Wortmann_2006_Mol.Genet.Metab_88_47 |
| PubMedSearch : Wortmann_2006_Mol.Genet.Metab_88_47 |
| PubMedID: 16527507 |
| Gene_locus related to this paper: human-SERAC1 |