Substrate In Vitro Evidence:
1. Transient transfection of ABCB6 promoter constructs containing the luciferase gene resulted in an 1100-2300-fold increase compared to empty vector. Further experiments demonstrated that the promoter is orientation-dependent. Emadi-Konjin, HP et al. Biochim Biophys Acta 2002 Mar 19, 1574(2):117-30 PMID 11955620.
Substrate In Vivo Evidence:
1. MTABC3 (mammalian mitochondrial ABC protein 3) is a half-transporter that transfer a precursor of the iron-sulfur cluster from mitochondria to the cytosol in yeast. The 2q36 region is within the candidate locus for lethal neonatal metabolic syndrome, a disorder of mitochondrial function associated with iron metabolism. Mitsuhashi, N et al. JBC 2000 Jun 9, 275(23):17536-40 PMID 10837493.
2. ABCB6 is not the causative gene for the growth retardation syndrome with amindoaciduria, cholestasis, iron overload, and lactacidosis (GRACILE). No mutations in the ABCB6 coding region were found, and expression level in fibroblasts were comparable between patients and controls. Vispaa, I et al. Am J Med Genet 2002 May 1, 109(3):202-5 PMID 11977179.
Tissue Distribution Evidence:
1. Northern blots demonstrate that ABCB6 is expressed ubiquitously, but at low levels in normal human liver. ABCB6 is overexpressed in human hepatocellular carcinomas compared to paired surrounding non-malignant tissue. Emadi-Konjin, HP et al. Biochim Biophys Acta 2002 Mar 19, 1574(2):117-30 PMID 11955620.
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)