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 ?
The findings raise hopes for future therapies to reduce excess porphyrins by restoring the supply of ABCB6 protein to more normal levels, Schuetz said.
Working in mouse blood cells in the laboratory, investigators showed that the ABCB6 variants were incapable of porphyrin transport.
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.
Primers used for amplification of ADAR1 gene are 5'- AAACCCCATCCCTCTGACTG-3' (forward) and 5'- AGGAGAGAGAGGCTTGGAGA-3' (reverse), and primers used for amplification of ABCB6 gene are 5'- AAGATCTCTCTCTGGGCAGC-3' (forward) and 5'- AGGGAGAGGAGGTAAGAGGG-3' (reverse).