Identification of a New Splice Variant of the Human ABCC6 Transporter
Joint Authors
Bisaccia, Faustino
Iacobazzi, Vito
Ostuni, Angela
Castiglione Morelli, Maria Antonietta
Armentano, Maria Francesca
Infantino, Vittoria
Source
Biochemistry Research International
Issue
Vol. 2008, Issue 2008 (31 Dec. 2008), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2008-10-07
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
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 Δ19Δ24.
PCR analysis from cDNA of cell cultures of primary human hepatocites and embryonic kidney confirms the presence of the ABCC6Δ19Δ24 isoform.
Western blot analysis of the embryonic kidney cells shows a band corresponding to the molecular weight of the truncated protein.
American Psychological Association (APA)
Armentano, Maria Francesca& Ostuni, Angela& Infantino, Vittoria& Iacobazzi, Vito& Castiglione Morelli, Maria Antonietta& Bisaccia, Faustino. 2008. Identification of a New Splice Variant of the Human ABCC6 Transporter. Biochemistry Research International،Vol. 2008, no. 2008, pp.1-4.
https://search.emarefa.net/detail/BIM-987829
Modern Language Association (MLA)
Armentano, Maria Francesca…[et al.]. Identification of a New Splice Variant of the Human ABCC6 Transporter. Biochemistry Research International No. 2008 (2008), pp.1-4.
https://search.emarefa.net/detail/BIM-987829
American Medical Association (AMA)
Armentano, Maria Francesca& Ostuni, Angela& Infantino, Vittoria& Iacobazzi, Vito& Castiglione Morelli, Maria Antonietta& Bisaccia, Faustino. Identification of a New Splice Variant of the Human ABCC6 Transporter. Biochemistry Research International. 2008. Vol. 2008, no. 2008, pp.1-4.
https://search.emarefa.net/detail/BIM-987829
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-987829