DNA polymerase gamma catalytic subunit (DNA polymerase subunit gamma-1, POLG, MDP1, POLG1, POLGA)
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Function
- role in the replication of mitochondrial DNA
Structure
- heterotrimer composed of a catalytic subunit & an homodimer of accessory subunits
- belongs to the DNA polymerase type-A family
Compartment
Pathology
- defects in POLG are the cause of:
- autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1
- autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions
- sensory ataxic neuropathy, dysarthria & ophthalmoparesis (SANDO)
- Alpers-Huttenlocher syndrome
- mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE)
Polymorphism
poly-Gln region seems to be polymorphic
More general terms
Component of
References
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=POLG
- ↑ UniProt http://www.uniprot.org/uniprot/P54098.html
- ↑ Linn S How many pols does it take to replicate nuclear DNA? Cell 66:185 1991 PMID: https://www.ncbi.nlm.nih.gov/pubmed/1855251
Database
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:5428
- OMIM: https://mirror.omim.org/entry/157640
- OMIM: https://mirror.omim.org/entry/174763
- OMIM: https://mirror.omim.org/entry/203700
- OMIM: https://mirror.omim.org/entry/258450
- OMIM: https://mirror.omim.org/entry/603041
- UniProt: http://www.uniprot.org/uniprot/P54098.html