Genetics of PXE

In 2000, PXE International and members of the PXE International Research Consortium (PIRC) announced the discovery of the PXE gene. Drs. Jouni Uitto, PhD, MD, Charles Boyd, PhD, and Arthur Bergen, MD collectively located the gene attributed to PXE on the short arm of chromosome 16. This gene had previously been described as the MRP6 gene, now known as the ABCC6 gene, and its specific location is 16p13.1. The ABCC6 gene encodes for an ATP-Binding Cassette (ABC) protein, subfamily C, member 6 that is part of a larger group of over 100 proteins. The ABCC6 gene covers approximately 75kb of the genome and is comprised of 31 exons and 32 introns.

In 2001, Dr. Uitto also discovered the location of two pseudogenes, similar to the PXE gene, which only include truncated duplications of the gene up to the ninth intronic region. The first pseudogene, designated ABCC6-Ψ1, includes the upstream region of the gene plus homologous sequence of exon 1 through intron 9. The second pseudogene, designated ABCC6Ψ2, includes the upstream sequence as well as the region between exon 1 and intron 4.

Research is currently progressing to locate disease-causing mutations. Currently, over 400 mutations have been located and are being catalogued in a mutational database through a joint project between the PXE International Research Consortium and the National Library of Medicine.


Primary Researchers

Tamás Arányi
Lionel Bercovitch
Nicolas Chassaing
Anne De Paepe
Michael Dean
Timothy Hefferon
Doris Hendig
Qiujie Jiang
Olivier Le Saux
Georges Lefthériotis
Qiaoli Li
Ludovic Martin
Ivonne Pasquali-Ronchetti
Ellen Pfendner
Michele Ramsay
Daniela Quaglino
Jouni Uitto
Olivier Vanakker
András Váradi

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