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

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

rs1427463 in MILR1;POLG2 gene and Height PMID 22021425 2012 Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe).

rs104894632 in MILR1;POLG2 gene and Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4 PMID 16685652 2006 Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia.