Substrate In Vivo Evidence:
1. ABCA10 was cloned from human macrophages. Seven SNPs identified in ABCA10 transcripts. High amino acid sequence homology with ABCA6, ABCA8, and ABCA9. ABCA10 is a cholesterol-responsive gene (expression is suppressed by cholesterol import). Suggested role in macrophage lippid homeostasis. Wenzel, JJ et al. Biochem Biophys Res Comm 2003 Jul 11, 306(4):1089-98 PMID 12821155.
Tissue Distribution Evidence:
1. RNA dot blot showed highest expression in heart, brain, and GI tract. Wenzel, JJ et al. Biochem Biophys Res Comm 2003 Jul 11, 306(4):1089-98 PMID 12821155.
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)