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.(F139IfsX7) p.(Phe139IlefsX7) insertion in codon (117) leading to an early LAL truncation (codon 124) Wolman phenotype. in the Mature protein. c.414insA, p.(F139Ifs*7)
| Title : Fatal genetic defect causing Wolman disease. - |
| Author(s) : Mayatepek E , Seedorf U , Wiebusch H , Lenhartz H , Assmann G |
| Ref : J Inherit Metab Dis , 22 :93 , 1999 |
| PubMedID: 10070628 |
| Gene_locus related to this paper: human-LIPA |