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.S127X Ser127Ter Two homozygotes for a 1-bp deletion introducing a premature in-frame termination codon at amino acid position 127. S106X Ser106Ter in the mature protein
| Title : Characterization of lysosomal acid lipase mutations in the signal peptide and mature polypeptide region causing Wolman disease - Zschenker_2001_J.Lipid.Res_42_1033 |
| Author(s) : Zschenker O , Jung N , Rethmeier J , Trautwein S , Hertel S , Zeigler M , Ameis D |
| Ref : J Lipid Res , 42 :1033 , 2001 |
| Abstract : Zschenker_2001_J.Lipid.Res_42_1033 |
| ESTHER : Zschenker_2001_J.Lipid.Res_42_1033 |
| PubMedSearch : Zschenker_2001_J.Lipid.Res_42_1033 |
| PubMedID: 11441129 |
| Gene_locus related to this paper: human-LIPA |