ABCA1 p.Gln2215*
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PMID: 17303779
[PubMed]
Kiss RS et al: "Genetic etiology of isolated low HDL syndrome: incidence and heterogeneity of efflux defects."
No.
Sentence
Comment
71
0 2 4 6 8 10 m ock W T E1386Q C 1477F D 1706N S1731C N 1800H W 590L H 551D Q 2215X antibodybound (cpmx103 /mgcellprotein) 0 1 2 3 4 5 m ock W T E1386Q C 1477F D 1706N S1731C N 1800H W 590L H 551D Q 2215X apoA-Imediatedefflux(%)A B apoA-Imediatedefflux (%oftotalradioactivity) antibodybound (cpmx103/mgcellprotein) Figure 1.
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ABCA1 p.Gln2215* 17303779:71:0
status: NEW76 Q2215X is a truncation mutant and was used to demonstrate that the C terminus of ABCA1 is necessary for function, and therefore the 1851X mutant would also be nonfunctional.
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ABCA1 p.Gln2215* 17303779:76:0
status: NEW
PMID: 15347662
[PubMed]
Fitzgerald ML et al: "ATP-binding cassette transporter A1 contains a novel C-terminal VFVNFA motif that is required for its cholesterol efflux and ApoA-I binding activities."
No.
Sentence
Comment
113
The ABCA1 C Terminus Is Essential for Efflux but the PDZ Protein-binding Motif Is Not-To test the functional importance of the C terminus, we engineered the 46-amino acid Tangier deletion (Q2215X, ⌬46) as well as a larger deletion described by Clee et al. (R2144X, ⌬117) (33) into our cDNA constructs.
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ABCA1 p.Gln2215* 15347662:113:189
status: NEW