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.837-838del Exon 6 Phenotype (Unclassified)
| Title : A novel TC deletion resulting in Pro(260)-->Stop in the human LCAT gene is associated with a dominant effect on HDL-cholesterol - Kasid_2001_Atherosclerosis_156_127 |
| Author(s) : Kasid A , Rhyne J , Zeller K , Pritchard H , Miller M |
| Ref : Atherosclerosis , 156 :127 , 2001 |
| Abstract : Kasid_2001_Atherosclerosis_156_127 |
| ESTHER : Kasid_2001_Atherosclerosis_156_127 |
| PubMedSearch : Kasid_2001_Atherosclerosis_156_127 |
| PubMedID: 11369005 |