PMID: 20463468

Kruit JK, Brunham LR, Verchere CB, Hayden MR
HDL and LDL cholesterol significantly influence beta-cell function in type 2 diabetes mellitus.
Curr Opin Lipidol. 2010 Jun;21(3):178-85., [PubMed]
Sentences
No. Mutations Sentence Comment
45 ABCA1 p.Arg230Cys
X
ABCA1 p.Arg230Cys 20463468:45:130
status: NEW
view ABCA1 p.Arg230Cys details
 Initial evidence suggesting that changes in ABCA1 activity could influence glucose homeostasis in humans came from a study of the R230C polymorphism in ABCA1 in the Mexican population. Login to comment 47 ABCA1 p.Arg230Cys
X
ABCA1 p.Arg230Cys 20463468:47:112
status: NEW
view ABCA1 p.Arg230Cys details
 Functional analysis shows a 30% decrease in cholesterol efflux compared to wild-type ABCA1, indicating that the R230C is indeed a partial loss-of-function mutation (S. Canizales-Quinteros, unpublished data). Login to comment