Gene Locus : human-LCAT
Mode of mutation : Natural mutant
Disease : Lecithin-cholesterol acyltransferase deficiency (LCATD) and fish-eye disease (FED)
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 : Insertion of 30bp in signal peptide LEU-LEU-PRO-PRO-ALA-ALA-PRO-PHE-TRP-LEU at position 17 with numbering including signal peptide c.54ins30bp Dupl.aa-6>4 Dupl.aa19>28
| Title : Deficiency of lecithin:cholesterol acyltransferase due to compound heterozygosity of two novel mutations (Gly33Arg and 30 bp ins) in the LCAT gene - |
| Author(s) : Wiebusch H , Cullen P , Owen JS , Collins D , Sharp PS , Funke H , Assmann G |
| Ref : Hum Mol Genet , 4 :143 , 1995 |
| PubMedID: 7711728 |
| Gene_locus related to this paper: human-LCAT |