Identification of a New Splice Variant of the Human ABCC6 Transporter.

Article Details


Armentano MF, Ostuni A, Infantino V, Iacobazzi V, Castiglione Morelli MA, Bisaccia F

Identification of a New Splice Variant of the Human ABCC6 Transporter.

Biochem Res Int. 2008;2008:912478. doi: 10.1155/2008/912478. Epub 2008 Oct 16.

PubMed ID
21318057 [ View in PubMed

ABCC6 is a member of the adenosine triphosphate-binding cassette (ABC) gene subfamily C that encodes a protein (MRP6) involved in active transport of intracellular compounds to the extracellular environment. Mutations in ABCC6 cause pseudoxanthoma elasticum (PXE), an autosomal recessive disorder of the connective tissue characterized by progressive calcification of elastic structures in the skin, the eyes, and the cardiovascular system. MRP6 is codified by 31 exons and contains 1503 amino acids. In addition to a full-length transcript of ABCC6, we have identified an alternatively spliced variant of ABCC6 from a cDNA of human liver that lacks exons 19 and 24. The novel isoform was named ABCC6 Delta19Delta24. PCR analysis from cDNA of cell cultures of primary human hepatocites and embryonic kidney confirms the presence of the ABCC6Delta19Delta24 isoform. Western blot analysis of the embryonic kidney cells shows a band corresponding to the molecular weight of the truncated protein.

DrugBank Data that Cites this Article

NameUniProt ID
Multidrug resistance-associated protein 6O95255Details