Recombinant Human DNA polymerase subunit gamma-1 (POLG), Truncated

Uniprot Id

P54098

Target Species

Human

Target Name

POLG

Target Full Name

DNA polymerase subunit gamma-1

Target Function

Involved in the replication of mitochondrial DNA. Associates with mitochondrial DNA.

Target Involvement

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1); Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO); Mitochondrial DNA depletion syndrome 4A (MTDPS4A); Mitochondrial DNA depletion syndrome 4B (MTDPS4B); Leigh syndrome (LS); Spinocerebellar ataxia with epilepsy (SCAE)

Target Subcellular Location

Mitochondrion. Mitochondrion matrix, mitochondrion nucleoid.

Target Protein Families

DNA polymerase type-A family

Target Synonyms

DNA directed DNA polymerase gamma; DNA polymerase subunit gamma 1; DNA polymerase subunit gamma-1; DPOG1_HUMAN; MDP 1; MDP1; Mitochondrial DNA polymerase catalytic subunit; Mitochondrial DNA polymerase gamma; PEO; POLG 1; POLG A; PolG alpha; POLG; PolG-alpha; POLG1; POLGA; Polymerase (DNA directed) gamma; SANDO; SCAE

Target Background

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.