Substrate In Vivo Evidence:
1. ABCA9 was cloned from human macrophages. ABCA9 expression is induced during monocyte differentiation into macrophages and suppressed by cholesterol import, suggesting that ABCA9 is likely involved in monocyte differentiation and macrophage lipid homeostasis. Piehler, A et al. Biochem Biophys Res Comm 2002 Jul 12, 295(2):408-16 PMID 12150964.
Tissue Distribution Evidence:
1. Ubiquitous expression with highest mRNA levels in heart, brain, and fetal tissues (RNA dot blot). Piehler, A et al. Biochem Biophys Res Comm 2002 Jul 12, 295(2):408-16 PMID 12150964.
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)