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 : [Two cases of MEGDEL syndrome due to variants of SERAC1 gene and a literature review] - Lin_2023_Zhonghua.Yi.Xue.Yi.Chuan.Xue.Za.Zhi_40_1100 |
| Author(s) : Lin X , Yan Z , Chen Y , Chen S |
| Ref : Zhonghua Yi Xue Yi Chuan Xue Za Zhi , 40 :1100 , 2023 |
| Abstract : |
| PubMedSearch : Lin_2023_Zhonghua.Yi.Xue.Yi.Chuan.Xue.Za.Zhi_40_1100 |
| PubMedID: 37643955 |
| Title : [Analysis of six children with 3-methylglutaconic aciduria] - Ling_2021_Zhonghua.Er.Ke.Za.Zhi_59_695 |
| Author(s) : Ling SY , Yu Y , Qiu WJ , Ye J , Ji WJ , Zhan X , Gong ZW , Gu XF , Han LS |
| Ref : Zhonghua Er Ke Za Zhi , 59 :695 , 2021 |
| Abstract : |
| PubMedSearch : Ling_2021_Zhonghua.Er.Ke.Za.Zhi_59_695 |
| PubMedID: 34333924 |
| Gene_locus related to this paper: human-SERAC1 |
| 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 : |
| 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 : |
| PubMedSearch : Wortmann_2012_Nat.Genet_44_797 |
| PubMedID: 22683713 |
| Gene_locus related to this paper: human-SERAC1 |