Gene: POLG2

Alternate names for this Gene: HP55|MTDPS16|MTPOLB|PEOA4|POLB|POLG-BETA|POLGB

Gene Summary: This 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.

Gene is located in Chromosome: 17

Location in Chromosome : 17q23.3

Description of this Gene: DNA polymerase gamma 2, accessory subunit

Type of Gene: protein-coding

Gene: MILR1

Alternate names for this Gene: Allergin-1|C17orf60|MCA-32|MCA32

Gene Summary:

Gene is located in Chromosome: 17

Location in Chromosome : 17q23.3

Description of this Gene: mast cell immunoglobulin like receptor 1

Type of Gene: protein-coding

rs17650301 in POLG2;MILR1 gene and Age at menopause PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs113252144 in POLG2;MILR1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs886037843 in POLG2;MILR1 gene and Liver Failure, Acute PMID 27592148 2016 Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion.