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 : c.442C>T. In 3 members of a consanguineous Turkish family with 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL\; 614739), Wortmann et al. (2012) identified a homozygous 442C-T transition in the SERAC1 gene, resulting in an arg148-to-ter (R148X) substitution. Also found in a patient by Lumish et al. 2014 together with c.438delC (p.T147Rfs*22) in trans
Title : The Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Child with SERAC1 Mutations - Lumish_2014_JIMD.Rep_16_75 |
Author(s) : Lumish HS , Yang Y , Xia F , Wilson A , Chung WK |
Ref : JIMD Rep , 16 :75 , 2014 |
Abstract : Lumish_2014_JIMD.Rep_16_75 |
ESTHER : Lumish_2014_JIMD.Rep_16_75 |
PubMedSearch : Lumish_2014_JIMD.Rep_16_75 |
PubMedID: 24997715 |
Gene_locus related to this paper: human-SERAC1 |
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 |