Substrate In Vitro Evidence:
1. Free Cholesterol Efflux - Using J774 macrophages - Kellner-Weibel G, Atherosclerosis 2003: 235-243
2. Phospholipid efflux - Oram JF, Current Opinion in Lipidology 2002, 373-381
3. Interleukin 1-beta transport in Macrophages, but not monocytes from normal and TD patients- Xiaoqin Zhou et al, Biochemical and Biophysical Research Communications, 2002: 598-604
4. Apolipoprotein E secretion from monocyte-derived macrophages- Von Eckardstein A et al, FASEB, 2001: 1555-1561
Substrate In Vivo Evidence:
1. Atherogenesis, Tangier's Disease, Familial Hypoalphalipopreteinemia (FHA) - Singaraja RR et al, Ateriosclerosis Thrombosis and Vascular Biology 2003: 1322-1332
2. Apoptotic cell Engulfment by macrophages - Broccando C et al, Biochimica et Biophysica Acta, 1999: 395-404
3. ABCA1 modulates the development of aortic atherosclerosis in C57BL/6 and apoE-knockout mice, Joyce CW et al, PNAS 2002: 407-412
4. Glyburide inhibits ApoE secretion - Von Eckardstein A et al, FASEB, 2001: 1555-1561
Tissue Distribution Evidence:
3. Lymph node
6. Low in Brain and Lung
By Northern Blot
Reference: C. Broccardo et al, Biochimia et Biophysica Acta 1461 (1999) 395-404
The heat map summarizes relative expression by tissue type
at two levels of tissue detail, e.g., 'Brain' and 'Brain - Amygdala'.
Choose among four calculated expression values, including mean and median RPKM
values, and quantile normalized (QN) distributions of these values.
(Note that differences between some distributions are subtle.)
The coloring is relative to the mean of all displayed values.
All values are log base 2. (See also PMT GTEx Expression Plotting.)
Click on a transcript or tissue to resort the data.
Non-synonymous amino acid changes shown in red, indels (insertions and deletions) in blue, and synonymous changes in green. Exon(s) indicated by black outlines.
20141104 phase 3 variant call set of the 20130502 sequence freeze and alignments for SNPs and short indels (indels > 255 and structural variants are not included here). This variant set contains 2504 individuals from 26 populations (mouse over population column heading for population sizes). Showing gene variants in regions defined by NCBI RefSeq exons, putative promoter, and PMT resequencing assays. Note: Frequencies are calculated directly from reported genotypes and may vary from consensus frequencies reported by the 1000 Genomes project, which relied on additional data and the GATK tool Variant Quality Score Recalibrator.
dbSNP build 142.
Array availability: I - found on Illumina Human1M-Duo BeadChip (2011-04-21) A - found on Affymetrix Genome-Wide SNP Array 6.0 (2011-06-21)