In:
Research Letters in Biochemistry, Hindawi Limited, Vol. 2008 ( 2008), p. 1-4
Abstract:
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 1924. PCR analysis from cDNA of cell cultures of primary human hepatocites and embryonic kidney confirms the presence of the ABCC61924 isoform. Western blot analysis of the embryonic kidney cells shows a band corresponding to the molecular weight of the truncated protein.
Type of Medium:
Online Resource
ISSN:
1687-6709
,
1687-6717
Language:
English
Publisher:
Hindawi Limited
Publication Date:
2008
detail.hit.zdb_id:
2566725-7
detail.hit.zdb_id:
2473924-8