ABCB6


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Related to ABCB6: ABCC6

ABCB6

A gene on chromosome 2q36 that encodes an ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins, MDR/TAP subfamily, which is involved in multi-drug resistance as well as antigen presentation, and thought to play a role in mitochondrial function.

Molecular pathology
ABCB6 is a candidate gene for lethal neonatal metabolic syndrome, a disorder of mitochondrial function.
References in periodicals archive ?
ABCB6 is carried on the surface of red blood cells, where 85 percent of heme is produced.
The results may provide an explanation for drug-induced cases of the disease, particularly in individuals with the rare Langereis (Lan) negative blood type whose red blood cells do not have ABCB6 protein.
The exons, splicing sites and 10 bp flanking intron sequences of ADAR1 and ABCB6 genes were captured by a gene chip commercially ordered from NimbleGen (Roche NimbleGen, Madison, WI, USA).
[sup][4] Clean reads (in FASTQ format) were aligned to the reference human genomic sequence (NCBI37/gh19) of ADAR1 and ABCB6 genes by using BWA software package (Burrows Wheeler Aligner, http://www.sourceforge.net/projects/bio-bwa/).
Some genes are relevant in the context of MDR, such as: CYP3A4, GSTP1, NR112 (PXR), 7XNRD1, ABCG2 (BCRP1), ABCB6, UBC, CYP1A1, ABCB1 (P-gp), CASP-3, and CASP-8.