POLG wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human POLG wild-type allele is located in the vicinity of 15q26.1 and is approximately 30 kb in length. This allele, which encodes DNA polymerase subunit gamma-1 protein, is involved in mitochondrial DNA replication. Mutations in the gene are associated with colorectal cancer, 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).

**Synonyms:** - DNA Polymerase Gamma, Catalytic Subunit wt Allele - MDP1 - MIRAS - MTDPS4A - MTDPS4B - PEO - POLG1 - POLGA - Polymerase (DNA Directed), Gamma Gene - Polymerase (DNA) Gamma, Catalytic Subunit Gene - Polymerase, DNA, Gamma Gene - Polymerase, DNA, Gamma-1 Gene - SANDO - SCAE