Substrate In Vitro Evidence:
1. Transient expression of ANC7 n mouse embryo liver BNL-CL2 cells resulted in an increase in the level and activity of ferrochelatase (the last enzyme in the pathway to synthesize heme) and thioredoxin (a cytosolic protein containing Fe/S). ABC7 expression therefore contributes to the production of heme during the differentiation of erythroid cells. Taketani, S et al. Blood 2003 Apr 15, 101(8):3274-80 PMID 12480705.
Substrate In Vivo Evidence:
1. A SNP (I400M) in ABC7 was linked with X-linked sideroblastic anemia and ataxia (XLSA/A), a recessive disorder characterized by onset of non-progressive cerebellar ataxia and mild anemia. Allikmets, R et al. Hum Mol Genet. 8(5):743-9 PMID 10196363.
2. ABC7 plays a central role in the maturation of cytosolic iron-sulfur cluster-containing proteins. Bekri, S et al. Blood 2000 Nov 1, 96(9):3256-64 PMID 11050011.
Tissue Distribution Evidence:
1. Targeting signal indicates that the ABC7 gene product is likely to be located in the mitochondrial inner membrane. Shimada, Y et al. J Hum Genet 1998, 43(2):115-22 PMID 9621516.
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)