Retina International's Scientific Newsletter - Multidrug Resistance-Associated Protein 6

	Retina International's Scientific Newsletter
Editor's Notes from literature on Multidrug Resistance-Associated Protein 6 (ABCC6/ MPR6/ MOAT-E)

Recent update from: 18.03.2001

MRP6, Type 6

Notes

Coding sequence of 4.5 kb
Genomic ca. 73 kb
Previously named MOAT-E
Exclusively expressed in
- kindney
- liver
according to northern blot
RT-PCR in lymphoblast cultures has been unsuccesful under standard conditions
Defects causing PXE may reside in the liver or kidney
3 membrane spanning domains of 5, 6, and 6 transmembrane segments
2 NBF of conserved Walker A,B, and C
Transmembrane transporter

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 16p13.1
	in mouse:

Gene Data

mRNA: ca. 6 kb

Exons: 31

Primers:

Protein Data

Amino acids: 1503

Molecular weight	on SDS-PAGE:
	calculated: 165 kDa

Reference: (1)

References: 1. Ringpfeil,F., Lebwohl,M.G., Christiano,A.M., and Uitto,J. Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. 2000; Proc.Natl.Acad.Sci.U.S.A. 97: 6001-6006.
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Contact the editor: irpamp@irpa.org	This site is maintained and edited by Dr. rer. medic. Markus Preising, Dipl.Biol. Molecular Genetics Laboratory Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics University of Regensburg Head: Prof. Dr. med. Birgit Lorenz