POLG wt Allele

Preferred Label : POLG wt Allele;

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

NCIt 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).;

NCI Metathesaurus CUI : CL541450;

GenBank Accession Number : X98093;

Details

Origin ID

C143070;

UMLS CUI

C4552632;

Automatic exact mappings (from CISMeF team)
- DNA polymerase gamma, catalytic subunit [ORDO Gene]
- Mitochondrial dna depletion syndrome 4b (mngie type) [OMIM Phenotype]
- Polymerase, dna, gamma [OMIM gene]
- Progressive external ophthalmoplegia [ICD-11 Subcategory]
- Recessive mitochondrial ataxia syndrome [ORDO Disease]
- Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome [ORDO Disease]
- Skin scar [LOINC System]
- Spinocerebellar ataxia with epilepsy [ORDO Disease]
- carcinoma, intraductal, noninfiltrating [MeSH Descriptor]
- cicatrix [MeSH Descriptor]
- cicer [MeSH Descriptor]
- sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [DO Concept]
- twinkle mtDNA helicase [ORDO Gene]
OMIM relation
- Polymerase, dna, gamma [OMIM gene]
See also inter- (CISMeF)
- Mitochondrial dna depletion syndrome 4a (alpers type) [OMIM Phenotype]
- Mitochondrial recessive ataxic syndrome [ICD-11 More detail]
- Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [OMIM Phenotype]
- Spinocerebellar ataxia with epilepsy [ICD-11 More detail]
- ataxia neuropathy spectrum [MeSH Supplementary Concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 15q26.1 [NCIt concept]
gene_plays_role_in_process
- Base Excision Repair [NCIt concept]
- DNA Repair [NCIt concept]
- DNA Replication [NCIt concept]
- Polymerization [NCIt concept]

Keyword's position in hierarchy(ies) :

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