Gene Locus : human-LIPA
Mode of mutation : Natural mutant
Disease : Wolman disease WD, Cholesterol Ester Storage Disease, CESD
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 : p.Y324X p.Tyr324Ter A patient with WD was homozygote for a null allele Y303X Tyr303Ter. Y303 in the mature protein. LIPA totally inactive
| Title : New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease - Pagani_1998_J.Lipid.Res_39_1382 |
| Author(s) : Pagani F , Pariyarath R , Garcia R , Stuani C , Burlina AB , Ruotolo G , Rabusin M , Baralle FE |
| Ref : J Lipid Res , 39 :1382 , 1998 |
| Abstract : Pagani_1998_J.Lipid.Res_39_1382 |
| ESTHER : Pagani_1998_J.Lipid.Res_39_1382 |
| PubMedSearch : Pagani_1998_J.Lipid.Res_39_1382 |
| PubMedID: 9684740 |
| Gene_locus related to this paper: human-LIPA |