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The Protein Pages

ATP-binding Cassette Transporter Retina (ABCR)

To see compiled data on further species click on the topics.
To see the reference for the human data click on the data

Editor's Notes from the Literature

Recent update from: 10.07.00

Description

The ATP-binding Cassette Transporter is an abundant protein in the rims of rod outer segment disks. A possible role in the transport of retinoids has been discussed (2).

GENE DATA

Exons: 50

Markers / RFLPs: Complete

Transcripts:

Regulatory elements:

Primers:

Chromosomes with ABCR locus
Assignment: 1p22.1 Involvement in Retinal Degenerations:

click here to see a compilation of

CLICK

several Mutations found to underlie


STGD1
AMD, ARMD
ARRP - RP19

PROTEIN DATA
Subunits: 1 Amino acids: 2273
Modifications:
Mr/ Weight:
Cofactors:

PROTEIN DATA

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Protein Subtype Locus Species EC-No. Swissprot PIR Prosite
ATP-binding Cassette Transporter Retina
ABCR Homo sapiens EC- P78363
PDOC00185
ATP-binding Cassette Transporter Retina
ABCR Homo sapiens EC- P78363
PS00211

GENE DATA

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Gene Subtype Locus Species Genbank Unigene Medline
ATP-binding Cassette Transporter Retina
ABCR Bos taurus U90126
97248596
ATP-binding Cassette Transporter Retina
ABCR Homo sapiens Y15660 Y15661 Y15662 Y15663 Y15664 Y15665 Y15666 Y15667 Y15668 Y15669 Y15670 Y15671 Y15672 Y15673 Y15674 Y15675 Y15676 Y15677 Y15678 Y15679 Y15680 Y15681 Y15682 Y15683 Y15684 AF001945
98163759 98141123
ATP-binding Cassette Transporter Retina
ABCR Homo sapiens AF000148 U88667 Y15635 Y15636 Y15637 Y15638 Y15639 Y15640 Y15641 Y15642 Y15643 Y15644 Y15645 Y15646 Y15647 Y15648 Y15649 Y15650 Y15651 Y15652 Y15653 Y15654 Y15655 Y15656 Y15657 Y15658 Y15659 NM_000350 Hs.198396 97345663 97207641 98141123 98163759
ATP-binding Cassette Transporter Retina
ABCR Mus musculus AF000149
97345663

GENE LOCUS DATA

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Gene Subtype Locus Species Genome Database Mouse Genome Database OMIM Locus Link
ATP-binding Cassette Transporter Retina
ABCR Homo sapiens

601691 24
ATP-binding Cassette Transporter Retina
ABCR Homo sapiens

601691

References:
1. Gerber,S., Rozet,J.M., Vandepol,T.J.R., Hoyng,C.B., Munnich,A., Blankenagel,A., Kaplan,J., and Cremers,F.P.M. Complete Exon-Intron Structure Of The Retina-Specific ATP Binding Transporter Gene (ABCR) Allows The Identification Of Novel Mutations Underlying Stargardt-Disease. 1998; Genomics. 48: 139-142.
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2. Sun,H., Molday,R.S., and Nathans,J. Retinal Stimulates ATP Hydrolysis by Purified and Reconstituted ABCR, the Photoreceptor-specific ATP-binding Cassette Transporter Responsible for Stargardt Disease. 1999; J.Biol.Chem. 274: 8269-8281.
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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