full name
DNA polymerase 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]
