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 :
179311 bp deletion, covers also partially a fourth gene PPM1B gene (in addition to (SLC3A1, PREPL, C2Orf34), symptomes are more severe.
| Title : PREPL, a prolyl endopeptidase-like enzyme by name only?--Lessons from patients - Boonen_2011_CNS.Neurol.Disord.Drug.Targets_10_355 |
| Author(s) : Boonen K , Regal L , Jaeken J , Creemers JW |
| Ref : CNS Neurol Disord Drug Targets , 10 :355 , 2011 |
| Abstract : Boonen_2011_CNS.Neurol.Disord.Drug.Targets_10_355 |
| ESTHER : Boonen_2011_CNS.Neurol.Disord.Drug.Targets_10_355 |
| PubMedSearch : Boonen_2011_CNS.Neurol.Disord.Drug.Targets_10_355 |
| PubMedID: 21222627 |
| Gene_locus related to this paper: human-PREPL |
| Title : The 2p21 deletion syndrome: characterization of the transcription content - Parvari_2005_Genomics_86_195 |
| Author(s) : Parvari R , Gonen Y , Alshafee I , Buriakovsky S , Regev K , Hershkovitz E |
| Ref : Genomics , 86 :195 , 2005 |
| Abstract : Parvari_2005_Genomics_86_195 |
| ESTHER : Parvari_2005_Genomics_86_195 |
| PubMedSearch : Parvari_2005_Genomics_86_195 |
| PubMedID: 15913950 |
| Gene_locus related to this paper: human-PREPL |
| Title : A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease - Parvari_2001_Am.J.Hum.Genet_69_869 |
| Author(s) : Parvari R , Brodyansky I , Elpeleg O , Moses S , Landau D , Hershkovitz E |
| Ref : American Journal of Human Genetics , 69 :869 , 2001 |
| Abstract : Parvari_2001_Am.J.Hum.Genet_69_869 |
| ESTHER : Parvari_2001_Am.J.Hum.Genet_69_869 |
| PubMedSearch : Parvari_2001_Am.J.Hum.Genet_69_869 |
| PubMedID: 11524703 |
| Gene_locus related to this paper: human-PREPL |