Substrate In Vitro Evidence:
1. May play a role in lipid transport/organization during the formation of lamellar bodies (specialized secretory organelles of alveolar epithelial cells through which the packaging and secretion of pulmonary surfactant are regulated). MS of product from IP with LBM180 (see "trivial names") antibody resulted in partial sequence of ABCA3. Mulugeta, S. et al. JBC 2002 Jun 21, 277(25):22147-55 PMID 11940594.
Tissue Distribution Evidence:
1. Gene transcript found in human lung cell lines and alveolar epithelial (ATII) cells (developmentally regulated). Mulugeta, S. et al. JBC 2002 Jun 21, 277(25):22147-55 PMID 11940594.
2. Highest levels in lung, lesser amounts in brain, heart, and pancreas (Northern blot). Connors, TD et al. Genomics 1997, 39:231-4.
3. RT-PCR detected high levels of ABCA3 in leukemic progenitor cells. Norwood, K et al. 2004 Mar, 28(3):295-9 PMID 14687625.
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)