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 : c.1081G>A Exon 6 Phenotype (LCATD)
| Title : Proteinuria in early childhood due to familial LCAT deficiency caused by loss of a disulfide bond in lecithin:cholesterol acyl transferase - Holleboom_2011_Atherosclerosis_216_161 |
| Author(s) : Holleboom AG , Kuivenhoven JA , van Olden CC , Peter J , Schimmel AW , Levels JH , Valentijn RM , Vos P , Defesche JC , Kastelein JJ , Hovingh GK , Stroes ES , Hollak CE |
| Ref : Atherosclerosis , 216 :161 , 2011 |
| Abstract : Holleboom_2011_Atherosclerosis_216_161 |
| ESTHER : Holleboom_2011_Atherosclerosis_216_161 |
| PubMedSearch : Holleboom_2011_Atherosclerosis_216_161 |
| PubMedID: 21315357 |
| Gene_locus related to this paper: human-LCAT |