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 c.202C-T transition in the SERAC1 gene, resulting in an arg68-to-ter (R68X) substitution. Western blot of patient cells showed no detectable SERAC1 protein.
| Title : Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria - Tort_2013_Mol.Genet.Metab_110_73 |
| Author(s) : Tort F , Garcia-Silva MT , Ferrer-Cortes X , Navarro-Sastre A , Garcia-Villoria J , Coll MJ , Vidal E , Jimenez-Almazan J , Dopazo J , Briones P , Elpeleg O , Ribes A |
| Ref : Mol Genet Metab , 110 :73 , 2013 |
| Abstract : Tort_2013_Mol.Genet.Metab_110_73 |
| ESTHER : Tort_2013_Mol.Genet.Metab_110_73 |
| PubMedSearch : Tort_2013_Mol.Genet.Metab_110_73 |
| PubMedID: 23707711 |
| Gene_locus related to this paper: human-SERAC1 |