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.1822_1828delTCAGCAGGTATTCACTCinsACCAACAGG) . This mutation deletes the splice donor site of exon 16 and predicts truncation of the last 45 amino acids encoded by exon 17. Neonatal hyperammonemia and liver synthesis dysfunction: severe MEGDHEL syndrome in two-day-old small for gestational age neonate
| Title : Distinct neonatal hyperammonemia and liver synthesis dysfunction: case report of a severe MEGDHEL syndrome - Kirchberg_2024_Front.Pediatr_12_1278047 |
| Author(s) : Kirchberg I , Lainka E , Gangfuss A , Kuechler A , Baertling F , Schlieben LD , Lenz D , Tschiedel E |
| Ref : Front Pediatr , 12 :1278047 , 2024 |
| Abstract : |
| PubMedSearch : Kirchberg_2024_Front.Pediatr_12_1278047 |
| PubMedID: 38445077 |
| Gene_locus related to this paper: human-SERAC1 |
| Title : Severe neonatal MEGDHEL syndrome with a homozygous truncating mutation in SERAC1 - Fellman_2022_Biochim.Biophys.Acta.Mol.Basis.Dis_1868_166298 |
| Author(s) : Fellman V , Banerjee R , Lin KL , Pulli I , Cooper H , Tyynismaa H , Kallijarvi J |
| Ref : Biochimica & Biophysica Acta Mol Basis Dis , 1868 :166298 , 2022 |
| Abstract : |
| PubMedSearch : Fellman_2022_Biochim.Biophys.Acta.Mol.Basis.Dis_1868_166298 |
| PubMedID: 34751152 |
| Gene_locus related to this paper: human-SERAC1 |