Identification of a New Splice Variant of the Human ABCC6 Transporter

المؤلفون المشاركون

Bisaccia, Faustino
Iacobazzi, Vito
Ostuni, Angela
Castiglione Morelli, Maria Antonietta
Armentano, Maria Francesca
Infantino, Vittoria

المصدر

Biochemistry Research International

العدد

المجلد 2008، العدد 2008 (31 ديسمبر/كانون الأول 2008)، ص ص. 1-4، 4ص.

الناشر

Hindawi Publishing Corporation

تاريخ النشر

2008-10-07

دولة النشر

مصر

عدد الصفحات

4

التخصصات الرئيسية

الكيمياء

الملخص 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.

نمط استشهاد جمعية علماء النفس الأمريكية (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

نمط استشهاد الجمعية الأمريكية للغات الحديثة (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

نمط استشهاد الجمعية الطبية الأمريكية (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

نوع البيانات

مقالات

لغة النص

الإنجليزية

الملاحظات

Includes bibliographical references

رقم السجل

BIM-987829