Gene: POLG

Alternate names for this Gene: MDP1|MIRAS|MTDPS4A|MTDPS4B|PEO|POLG1|POLGA|SANDO|SCAE

Gene Summary: Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. The encoded protein contains a polyglutamine tract near its N-terminus that may be polymorphic. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). Two transcript variants encoding the same protein have been found for this gene.

Gene is located in Chromosome: 15

Location in Chromosome : 15q26.1

Description of this Gene: DNA polymerase gamma, catalytic subunit

Type of Gene: protein-coding

Gene: FANCI

Alternate names for this Gene: KIAA1794

Gene Summary: The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group I. Alternative splicing results in two transcript variants encoding different isoforms.

Gene is located in Chromosome: 15

Location in Chromosome : 15q26.1

Description of this Gene: FA complementation group I

Type of Gene: protein-coding

rs1085307741 in POLG;FANCI gene and Alpers Syndrome (disorder) PMID 16621917 2006 Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

PMID 20185557 2010 mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae.

PMID 16957900 2007 Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations.

PMID 19578034 2009 The unfolding clinical spectrum of POLG mutations.

PMID 16401742 2006 Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population.

rs121918163 in POLG;FANCI gene and FANCONI ANEMIA, COMPLEMENTATION GROUP I PMID 17460694 2007 FANCI is a second monoubiquitinated member of the Fanconi anemia pathway.

PMID 17412408 2007 Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair.

PMID 17452773 2007 Identification of the Fanconi anemia complementation group I gene, FANCI.

rs1131691575 in POLG;FANCI gene and Mitochondrial Diseases PMID 28812649 2017 Decreased male reproductive success in association with mitochondrial dysfunction.

rs1131691575 in POLG;FANCI gene and PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 PMID 15477547 2004 POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.

PMID 14635118 2003 POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions.

PMID 15349879 2004 Sequence analysis of familial PEO shows additional mutations associated with the 752C-->T and 3527C-->T changes in the POLG1 gene.

PMID 11431686 2001 Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.

PMID 16639411 2006 Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.

PMID 12707443 2003 Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).

PMID 16621917 2006 Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

PMID 12872260 2003 Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle.

PMID 16634032 2006 Early-onset familial parkinsonism due to POLG mutations.

PMID 12565911 2003 Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia.

PMID 15917273 2005 Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.

PMID 12975295 2003 Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma.

PMID 16401742 2006 Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population.

PMID 15351195 2004 Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.