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.N119S p.Asn119Ser c.356A>G CESD patient compound heterozygous for this missense mutation and for the LIPA exon 8 splice junction mutation, (N98S Asbn98Ser in the mature protein)
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 : |
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 : |
PubMedSearch : Vinje_2018_Mol.Genet.Metab_123_169 |
PubMedID: 29196158 |
Gene_locus related to this paper: human-LIPA |
Title : A novel missense LIPA gene mutation, N98S, in a patient with cholesteryl ester storage disease - Hooper_2008_Clin.Chim.Acta_398_152 |
Author(s) : Hooper AJ , Tran HA , Formby MR , Burnett JR |
Ref : Clinica Chimica Acta , 398 :152 , 2008 |
Abstract : |
PubMedSearch : Hooper_2008_Clin.Chim.Acta_398_152 |
PubMedID: 18775687 |
Gene_locus related to this paper: human-LIPA |