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 : p.P69L p.Pro69Leu c.278 C>T P92L Pro92Leu with numbering including signal peptide
| Title : Two novel mutations of lecithin:cholesterol acyltransferase (LCAT) gene and the influence of APOE genotypes on clinical manifestations - Katayama_2011_NDT.Plus_4_299 |
| Author(s) : Katayama A , Wada J , Kataoka HU , Yamasaki H , Teshigawara S , Terami T , Inoue K , Kanzaki M , Murakami K , Nakatsuka A , Sugiyama H , Koide N , Bujo H , Makino H |
| Ref : NDT Plus , 4 :299 , 2011 |
| Abstract : Katayama_2011_NDT.Plus_4_299 |
| ESTHER : Katayama_2011_NDT.Plus_4_299 |
| PubMedSearch : Katayama_2011_NDT.Plus_4_299 |
| PubMedID: 25984174 |
| Gene_locus related to this paper: human-LCAT |