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. G266X Gly266Ter c796G>T Compound heterozygote for a G-->A transition at position -1 of the exon 8 splice donor site, resulting in skipping of the complete exon 8 S275_Q298del, and for a G --> T mutation leads to a premature stop codon at Gly245, resulting in inactive LAL enzyme. In addition, the previously identified L179P mutation is present on this allele (Aslanidis_1996) Homozygote with Wolman disease (Fasano_2012) G266X in the primary translation product G245X Gly245Ter in the mature protein. A compound heterozygote with c.509C > A(p.S103R)\/c.796G > T(p.G266X) (Santos Silva 2018). A compound heterozygote with c.860G>A (p.G287E) (Xiao 2022)
| Title : Distinguishing Lysosomal Acid Lipase Deficiency From Familial Hypercholesterolemia - Sheth_2023_JACC.Case.Rep_24_102023 |
| Author(s) : Sheth S , Toth PP , Baum SJ , Aggarwal M |
| Ref : JACC Case Rep , 24 :102023 , 2023 |
| Abstract : |
| PubMedSearch : Sheth_2023_JACC.Case.Rep_24_102023 |
| PubMedID: 37869222 |
| Title : [A case of delayed-type cholesteryl ester storage disease derived from LIPA gene mutation] - Xiao_2022_Zhonghua.Er.Ke.Za.Zhi_60_360 |
| Author(s) : Xiao ZJ , Liu SX , Zou B , Cheng HH , Xu H , Huang ZH , Shu SN |
| Ref : Zhonghua Er Ke Za Zhi , 60 :360 , 2022 |
| Abstract : |
| PubMedSearch : Xiao_2022_Zhonghua.Er.Ke.Za.Zhi_60_360 |
| PubMedID: 35385947 |
| Gene_locus related to this paper: human-LIPA |
| Title : Early onset lysosomal acid lipase deficiency presenting as secondary hemophagocytic lymphohistiocytosis: Two infants treated with sebelipase alfa - Santos_2018_Clin.Res.Hepatol.Gastroenterol_42_e77 |
| Author(s) : Santos Silva E , Klaudel-Dreszler M , Bakula A , Oliva T , Sousa T , Fernandes PC , Tylki-Szymanska A , Kamenets E , Martins E , Socha P |
| Ref : Clin Res Hepatol Gastroenterol , 42 :e77 , 2018 |
| Abstract : |
| PubMedSearch : Santos_2018_Clin.Res.Hepatol.Gastroenterol_42_e77 |
| PubMedID: 29705274 |
| Gene_locus related to this paper: human-LIPA |
| Title : Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity - Aslanidis_1996_Genomics_33_85 |
| Author(s) : Aslanidis C , Ries S , Fehringer P , Buchler C , Klima H , Schmitz G |
| Ref : Genomics , 33 :85 , 1996 |
| Abstract : |
| PubMedSearch : Aslanidis_1996_Genomics_33_85 |
| PubMedID: 8617513 |
| Gene_locus related to this paper: human-LIPA |