POLG2
DNA polymerase gamma 2, accessory subunit
17q23.3
Also known as: HP55, MTDPS16, MTDPS16A, MTDPS16B, MTPOLB, PEOA4, POLG-BETA, POLGB
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View full entry on WUSTL Neuromuscular
mitosyn.html#polg2
Gene Summary
RefSeq / NCBIThis gene encodes the processivity subunit of the mitochondrial DNA polymerase gamma. The encoded protein forms a heterotrimer containing one catalytic subunit and two processivity subunits. This protein enhances DNA binding and promotes processive DNA synthesis. Mutations in this gene result in autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions.[provided by RefSeq, Sep 2009]
External Resources
WUSTL Neuromuscular
Washington University Disease Center
ClinGen
Clinical Genome Resource
G2P
Gene-to-Phenotype (EBI)
GeneReviews
NCBI Expert-Authored Reviews
NCBI Gene
National Center for Biotechnology Information
PubMed
Biomedical Literature
UniProt
Universal Protein Resource
DECIPHER
DatabasE of genomiC varIation and Phenotype in Humans
Gene data compiled from the Washington University Neuromuscular Disease Center, NCBI Gene, and OMIM. For clinical use, always refer to primary sources.