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.M293I Met293Ile c.951G>A, M317I Met317Ile with numbering including signal peptide
| Title : Homozygous lecithin:cholesterol acyltransferase (LCAT) deficiency due to a new loss of function mutation and review of the literature - Roshan_2011_J.Clin.Lipidol_5_493 |
| Author(s) : Roshan B , Ganda OP , Desilva R , Ganim RB , Ward E , Haessler SD , Polisecki EY , Asztalos BF , Schaefer EJ |
| Ref : J Clin Lipidol , 5 :493 , 2011 |
| Abstract : Roshan_2011_J.Clin.Lipidol_5_493 |
| ESTHER : Roshan_2011_J.Clin.Lipidol_5_493 |
| PubMedSearch : Roshan_2011_J.Clin.Lipidol_5_493 |
| PubMedID: 22108153 |
| Gene_locus related to this paper: human-LCAT |
| Title : Lecithin-cholesterol acyltransferase (LCAT) deficiency with a missense mutation in exon 6 of the LCAT gene - Maeda_1991_Biochem.Biophys.Res.Commun_178_460 |
| Author(s) : Maeda E , Naka Y , Matozaki T , Sakuma M , Akanuma Y , Yoshino G , Kasuga M |
| Ref : Biochemical & Biophysical Research Communications , 178 :460 , 1991 |
| Abstract : Maeda_1991_Biochem.Biophys.Res.Commun_178_460 |
| ESTHER : Maeda_1991_Biochem.Biophys.Res.Commun_178_460 |
| PubMedSearch : Maeda_1991_Biochem.Biophys.Res.Commun_178_460 |
| PubMedID: 1859405 |
| Gene_locus related to this paper: human-LCAT |
| Title : Differential phenotypic expression by three mutant alleles in familial lecithin:cholesterol acyltransferase deficiency - Gotoda_1991_Lancet_338_778 |
| Author(s) : Gotoda T , Yamada N , Murase T , Sakuma M , Murayama N , Shimano H , Kozaki K , Albers JJ , Yazaki Y , Akanuma Y |
| Ref : Lancet , 338 :778 , 1991 |
| Abstract : Gotoda_1991_Lancet_338_778 |
| ESTHER : Gotoda_1991_Lancet_338_778 |
| PubMedSearch : Gotoda_1991_Lancet_338_778 |
| PubMedID: 1681161 |
| Gene_locus related to this paper: human-LCAT |