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.Y43X Tyr43Ter (Y22X Tyr22Ter in the mature protein) r.129C>G, p.(Y43*) Wolman phenotype
| Title : A new mutation (LIPA Tyr22X) of lysosomal acid lipase gene in a Japanese patient with Wolman disease - |
| Author(s) : Fujiyama J , Sakuraba H , Kuriyama M , Fujita T , Nagata K , Nakagawa H , Osame M |
| Ref : Hum Mutat , 8 :377 , 1996 |
| PubMedID: 8956047 |
| Gene_locus related to this paper: human-LIPA |