PTRF gene homepage

NOTE: gene name changed from PRTF to CAVIN1 This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
General information
Gene symbol PTRF
Gene name polymerase I and transcript release factor
Chromosome 17
Chromosomal band q21.31
Imprinted Unknown
Genomic reference NC_000017.10
Transcript reference NM_012232.5
Associated with diseases CGL-4
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) LOVD-team, but with Curator vacancy and Johan den Dunnen
Total number of public variants reported 12
Unique public DNA variants reported 5
Individuals with public variants 33
Hidden variants 0
Download all this gene's data Download all data
Notes NOTE: gene name changed from PRTF to CAVIN1
This database is one of the gene variant databases from the:
Date created October 11, 2009
Date last updated December 28, 2018
Version PTRF:181228

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
HGNC 9688
Entrez Gene 284119
PubMed articles PTRF
OMIM - Gene 603198
OMIM - Diseases CGL-4 (lipodystrophy, congenital generalized, type 4 (CGL-4))
GeneCards PTRF
GeneTests PTRF

Active transcripts




NCBI ID     

NCBI Protein ID     

00017177 17 polymerase I and transcript release factor NM_012232.5 NP_036364.2 12

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 © 2009-2019. 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.