ABCMdb

PMID: 12551945

Mulligan JD, Flowers MT, Tebon A, Bitgood JJ, Wellington C, Hayden MR, Attie AD
ABCA1 is essential for efficient basolateral cholesterol efflux during the absorption of dietary cholesterol in chickens.
J Biol Chem. 2003 Apr 11;278(15):13356-66. Epub 2003 Jan 27., [PubMed]

Sentences

No. Mutations Sentence Comment

42 ABCA1 p.Glu89Lys ABCA1 p.Glu89Lys The WHAM chicken ABCA1 gene has a G265A substitution that results in a glutamic acid to lysine substitution at amino acid 89 of the ABCA1 protein (E89K) (37). Login to comment 48 ABCA1 p.Glu89Lys In vitro studies showed that the E89K mutation results in intracellular accumulation of ABCA1, decreasing plasma membrane ABCA1 expression by 80-90% of wild type ABCA1 (determined by cell surface biotinylation) and resulting in a complete loss of function assayed by both annexin-V and apoAI binding (37). Login to comment 313 ABCA1 p.Glu89Lys The mechanism for the effect of ABCA1 dysfunction on triglyceride synthesis is unknown but may be caused by instability of SREBP-1c and lipogenic enzymes in the endoplasmic reticulum membrane, possibly due to the intracellular accumulation of the E89K ABCA1 variant (37). Login to comment 314 ABCA1 p.Glu89Lys The mechanism for the effect of ABCA1 dysfunction on triglyceride synthesis is unknown but may be caused by instability of SREBP-1c and lipogenic enzymes in the endoplasmic reticulum membrane, possibly due to the intracellular accumulation of the E89K ABCA1 variant (37). Login to comment