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.C51Y Cys51Tyr C74Y Cys74Tyr with numbering including signal peptide
| Title : Amelioration of circulating lipoprotein profile and proteinuria in a patient with LCAT deficiency due to a novel mutation (Cys74Tyr) in the lid region of LCAT under a fat-restricted diet and ARB treatment - Naito_2013_Atherosclerosis_228_193 |
| Author(s) : Naito S , Kamata M , Furuya M , Hayashi M , Kuroda M , Bujo H , Kamata K |
| Ref : Atherosclerosis , 228 :193 , 2013 |
| Abstract : Naito_2013_Atherosclerosis_228_193 |
| ESTHER : Naito_2013_Atherosclerosis_228_193 |
| PubMedSearch : Naito_2013_Atherosclerosis_228_193 |
| PubMedID: 23522979 |
| Gene_locus related to this paper: human-LCAT |