full name
polymerase (DNA) gamma, catalytic subunit

synonyms
MDP1, MIRAS, MTDPS4A, MTDPS4B, PEO, POLG1, POLGA, SANDO, SCAE, POLG, ENSG00000140521

HGNC
HGNC:9179

Entrez Gene
Gene:5428

ENSEMBL
ENSG00000140521

location
chr: 15
start: 89859536
stop: 89878026
strand: -

OMIM
OMIM:174763: POLG (Autosomal recessive inheritance)
OMIM:203700: Mitochondrial DNA depletion syndrome 4A (Alpers type)
OMIM:613662: Mitochondrial DNA depletion syndrome 4B (MNGIE type)
OMIM:607459: Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
OMIM:157640: Progressive external ophthalmoplegia, autosomal dominant 1
OMIM:258450: Progressive external ophthalmoplegia, autosomal recessive 1

transcripts
NM_001126131.1
NM_002693.2

pathways
Metabolic pathways [NCBI:132956] [KEGG:hsa01100]
Nucleotide Metabolism [NCBI:198876] [WikiPathways:WP404]