Gene Locus : human-PREPL
Mode of mutation : Natural mutant
Disease : Hypotonia-Cystinuria 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 : 127205 bp deletion, covers also partially C2Orf34 gene, symptomes are more severe. Called atypical HCS (covers partially SLC3A1 and PREPL genes)
| Title : Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome - Chabrol_2008_J.Med.Genet_45_314 |
| Author(s) : Chabrol B , Martens K , Meulemans S , Cano A , Jaeken J , Matthijs G , Creemers JW |
| Ref : Journal of Medical Genetics , 45 :314 , 2008 |
| Abstract : Chabrol_2008_J.Med.Genet_45_314 |
| ESTHER : Chabrol_2008_J.Med.Genet_45_314 |
| PubMedSearch : Chabrol_2008_J.Med.Genet_45_314 |
| PubMedID: 18234729 |
| Gene_locus related to this paper: human-PREPL |
| Title : Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome - Martens_2007_Eur.J.Hum.Genet_15_1029 |
| Author(s) : Martens K , Heulens I , Meulemans S , Zaffanello M , Tilstra D , Hes FJ , Rooman R , Francois I , de Zegher F , Jaeken J , Matthijs G , Creemers JW |
| Ref : Eur J Hum Genet , 15 :1029 , 2007 |
| Abstract : Martens_2007_Eur.J.Hum.Genet_15_1029 |
| ESTHER : Martens_2007_Eur.J.Hum.Genet_15_1029 |
| PubMedSearch : Martens_2007_Eur.J.Hum.Genet_15_1029 |
| PubMedID: 17579669 |
| Gene_locus related to this paper: human-PREPL |