The POLG gene homepage

General information
Gene symbol POLG
Gene name polymerase (DNA directed), gamma
Chromosome 15
Chromosomal band q24
Imprinted Unknown
Genomic reference LRG_765
Transcript reference NM_001126131.1, NM_002693.2
Exon/intron information NM_002693.2 exon/intron table
Associated with diseases MTDPS-4A, MTDPS-4B, PEOA-1, PEOB-1, SANDO
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 388
Unique public DNA variants reported 224
Individuals with public variants 266
Hidden variants 104
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 05, 2011
Date last updated March 02, 2021
Version POLG:210302

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_002693.2.
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 https://www.LOVD.nl/POLG
HGNC 9179
Entrez Gene 5428
PubMed articles POLG
OMIM - Gene 174763
OMIM - Diseases MTDPS-4A (mitochondrial DNA depletion syndrome, type 1 (MTDPS-4A, progressive sclerosing poliodystrophy))
MTDPS-4B (mitochondrial DNA depletion syndrome, type 4B (MTDPS-4B, MNGIE type))
PEOA-1 (ophthalmoplegia, external, progressive, with mitochondrial DNA deletions, autosomal dominant, type 1 (PEOA-1))
PEOB-1 (ophthalmoplegia, external, progressive, with mitochondrial DNA deletions, autosomal recessive, type 1 (PEOB-1))
SANDO (mitochondrial recessive ataxia syndrome (includes SANDO and SCAE))
HGMD POLG
GeneCards POLG
GeneTests POLG
Orphanet POLG


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00023868 15 transcript variant 1 NM_002693.2 NP_002684.1 381
00000051 15 polymerase (DNA directed), gamma, transcript variant 1 NM_001126131.1 NP_002684.1 333


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 © 2011-2021. 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.