The SALSA MLPA Probemix P092 ABCC6 is a research use only (RUO) assay for the detection of deletions or duplications in the ABCC6
gene, which is associated with pseudoxanthoma elasticum (PXE).
PXE is an autosomal recessive multisystem disorder that is associated with accumulation of mineralized and fragmented elastic fibers in the skin, vascular walls, Bruch’s membrane in the eye, and the upper gastrointestinal tract. Defects in the ABCC6
gene on chromosome 16p13.11 cause PXE. The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. The ABCC6 protein, a member of the multidrug resistance-associated protein (MRP) subfamily, is a putative efflux cellular transporter with unknown physiologic substrate.
The majority of PXE is caused by point mutations in the ABCC6
gene. A 16.4 kb deletion involving ABCC6
exons 23-29 is a recurrent pathogenic variant found in multiple populations with varying frequency. It represents approximately 30% of alleles in the US and about 5% of alleles in Europe (Le Saux et al. 2001).
More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1113/
The SALSA MLPA Probemix P092-C1 ABCC6 contains 33 MLPA probes with amplification products between 130 and 454 nucleotides (nt). This includes 22 probes for the ABCC6
gene targeting 22 out of 31 exons of the gene. Furthermore, two flanking probes are included to facilitate the determination of the extent of a deletion/duplication. In addition, nine reference probes are included and detect nine different autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes are available online (www.mlpa.com