Gene Locus : human-ABHD5
Mode of mutation : Natural mutant
Disease : Chanarin-Dorfman 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 : JANUARY-02-2013
Comment : p.S17fsX1 p.Ser17fsTer1 c.47+1G>A IVS1+1G>A splice site mutation G to A mutation in the GT donor splice site dinucleotide. retention of intron 1 giving a stop codon. The protein has only 17 aa (fs17stop)
| Title : Cerebral lipid accumulation in Chanarin-Dorfman Syndrome - Huigen_2015_Mol.Genet.Metab_114_51 |
| Author(s) : Huigen MC , van der Graaf M , Morava E , Dassel AC , van Steensel MA , Seyger MM , Wevers RA , Willemsen MA |
| Ref : Mol Genet Metab , 114 :51 , 2015 |
| Abstract : Huigen_2015_Mol.Genet.Metab_114_51 |
| ESTHER : Huigen_2015_Mol.Genet.Metab_114_51 |
| PubMedSearch : Huigen_2015_Mol.Genet.Metab_114_51 |
| PubMedID: 25468645 |
| Title : Liver cirrhosis in an infant with Chanarin-Dorfman syndrome caused by a novel splice-site mutation in ABHD5 - Cakir_2010_Acta.Paediatr_99_1592 |
| Author(s) : Cakir M , Bruno C , Cansu A , Cobanoglu U , Erduran E |
| Ref : Acta Paediatr , 99 :1592 , 2010 |
| Abstract : Cakir_2010_Acta.Paediatr_99_1592 |
| ESTHER : Cakir_2010_Acta.Paediatr_99_1592 |
| PubMedSearch : Cakir_2010_Acta.Paediatr_99_1592 |
| PubMedID: 20528790 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene - Redaelli_2010_Orphanet.J.Rare.Dis_5_33 |
| Author(s) : Redaelli C , Coleman RA , Moro L , Dacou-Voutetakis C , Elsayed SM , Prati D , Colli A , Mela D , Colombo R , Tavian D |
| Ref : Orphanet J Rare Dis , 5 :33 , 2010 |
| Abstract : Redaelli_2010_Orphanet.J.Rare.Dis_5_33 |
| ESTHER : Redaelli_2010_Orphanet.J.Rare.Dis_5_33 |
| PubMedSearch : Redaelli_2010_Orphanet.J.Rare.Dis_5_33 |
| PubMedID: 21122093 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Severe steatohepatitis in a patient with a rare neutral lipid storage disorder due to ABHD5 mutation - Ronchetti_2008_J.Hepatol_49_474 |
| Author(s) : Ronchetti A , Prati D , Pezzotta MG , Tavian D , Colombo R , Callea F , Colli A |
| Ref : Journal of Hepatology , 49 :474 , 2008 |
| Abstract : Ronchetti_2008_J.Hepatol_49_474 |
| ESTHER : Ronchetti_2008_J.Hepatol_49_474 |
| PubMedSearch : Ronchetti_2008_J.Hepatol_49_474 |
| PubMedID: 18644654 |
| Gene_locus related to this paper: human-ABHD5 |