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.(L200P) Leu200Pro c.599T>C, (p.(L179P) Leu179Pro in the mature protein) rs121965086
| Title : Characterization of the mechanisms by which missense mutations in the lysosomal acid lipase gene disrupt enzymatic activity - Vinje_2019_Hum.Mol.Genet_28_3043 |
| Author(s) : Vinje T , Laerdahl JK , Bjune K , Leren TP , Strom TB |
| Ref : Hum Mol Genet , 28 :3043 , 2019 |
| Abstract : Vinje_2019_Hum.Mol.Genet_28_3043 |
| ESTHER : Vinje_2019_Hum.Mol.Genet_28_3043 |
| PubMedSearch : Vinje_2019_Hum.Mol.Genet_28_3043 |
| PubMedID: 31131398 |
| Gene_locus related to this paper: human-LIPA |
| Title : Prevalence of cholesteryl ester storage disease among hypercholesterolemic subjects and functional characterization of mutations in the lysosomal acid lipase gene - Vinje_2018_Mol.Genet.Metab_123_169 |
| Author(s) : Vinje T , Wierod L , Leren TP , Strom TB |
| Ref : Mol Genet Metab , 123 :169 , 2018 |
| Abstract : Vinje_2018_Mol.Genet.Metab_123_169 |
| ESTHER : Vinje_2018_Mol.Genet.Metab_123_169 |
| PubMedSearch : Vinje_2018_Mol.Genet.Metab_123_169 |
| PubMedID: 29196158 |
| Gene_locus related to this paper: human-LIPA |
| Title : Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease - Maslen_1995_J.Inherit.Metab.Dis_18_620 |
| Author(s) : Maslen CL , Babcock D , Illingworth DR |
| Ref : J Inherit Metab Dis , 18 :620 , 1995 |
| Abstract : Maslen_1995_J.Inherit.Metab.Dis_18_620 |
| ESTHER : Maslen_1995_J.Inherit.Metab.Dis_18_620 |
| PubMedSearch : Maslen_1995_J.Inherit.Metab.Dis_18_620 |
| PubMedID: 8598644 |
| Title : Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease - Anderson_1994_Proc.Natl.Acad.Sci.U.S.A_91_2718 |
| Author(s) : Anderson RA , Byrum RS , Coates PM , Sando GN |
| Ref : Proceedings of the National Academy of Sciences of the United States of America , 91 :2718 , 1994 |
| Abstract : Anderson_1994_Proc.Natl.Acad.Sci.U.S.A_91_2718 |
| ESTHER : Anderson_1994_Proc.Natl.Acad.Sci.U.S.A_91_2718 |
| PubMedSearch : Anderson_1994_Proc.Natl.Acad.Sci.U.S.A_91_2718 |
| PubMedID: 8146180 |
| Gene_locus related to this paper: human-LIPA |
| Title : Molecular genetics of cholesterol ester hydrolase deficiency. (Abstract) - |
| Author(s) : Maslen CL , Illingworth DR |
| Ref : American Journal of Human Genetics , 53 (suppl.) :A926 , 1993 |
| PubMedID: |