View ABCC6 gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol ABCC6
Gene name ATP-binding cassette, sub-family C (CFTR/MRP), member 6
Chromosome 16
Chromosomal band p13.11
Imprinted Unknown
Genomic reference NG_007558.2
Transcript reference NM_001171.5
Associated with diseases GACI-2, PXE, PXEFF
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 1344
Unique public DNA variants reported 432
Individuals with public variants 779
Hidden variants 0
Notes This database is one of the "Eye disease" gene variant databases.
Date created July 06, 2012
Date last updated March 04, 2017
Version ABCC6:170304

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/ABCC6
HGNC 57
Entrez Gene 368
PubMed articles ABCC6
OMIM - Gene 603234
OMIM - Diseases GACI-2 (calcification, arterial, generalized, of infancy, type 2 (GACI-2))
PXE (pseudoxanthoma elasticum (PXE))
PXEFF (pseudoxanthoma elasticum, forme fruste (PXEFF))
HGMD ABCC6
GeneCards ABCC6
GeneTests ABCC6


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000864 16 transcript variant 1 NM_001171.5 NP_001162.4 1344


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2012-2017. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.