Identification of a New Splice Variant of the Human ABCC6 Transporter.
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ABSTRACT:
SUBMITTER: Armentano MF
PROVIDER: S-EPMC3023033 | biostudies-literature | 2008
REPOSITORIES: biostudies-literature
Publications
Identification of a New Splice Variant of the Human ABCC6 Transporter.
Armentano Maria Francesca MF Ostuni Angela A Infantino Vittoria V Iacobazzi Vito V Castiglione Morelli Maria Antonietta MA Bisaccia Faustino F
Research letters in biochemistry 20081016
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. ...[more]
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