Q87V_human-LIPA

General

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.Q87V p.Gln87Val Q66V Gln66Val in the mature protein

References (2)

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
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
PubMedID: 29196158
Gene_locus related to this paper: human-LIPA