DNA2 wt Allele

Preferred Label : DNA2 wt Allele;

NCIt synonyms : DNA2-Like Gene; PEOA6; DNA2L; DNA2 DNA Replication Helicase 2-Like (Yeast) Gene; DNA Replication Helicase/Nuclease 2 wt Allele; DNA Replication Helicase 2, Yeast, Homolog of Gene; RP11-9E13.1; hDNA2; DNA Replication Helicase 2 Homolog (Yeast) Gene; SCKL8;

NCIt definition : Human DNA2 wild-type allele is located within 10q21.3-q22.1 and is approximately 58 kb in length. This allele, which encodes DNA replication ATP-dependent helicase/nuclease DNA2 protein, plays a role in DNA replication and repair. Mutation of the gene is associated with autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions type 6 and may be associated with Seckel Syndrome 8.;

GenBank Accession Number : D42046;

Details

Origin ID

C117092;

UMLS CUI

C3890746;

Automatic exact mappings (from CISMeF team)
- DNA replication helicase/nuclease 2 [ORDO Gene]
- Dna replication helicase/nuclease 2 [OMIM gene]
- Seckel syndrome 8 [DO Concept]
- Seckel syndrome 8 [OMIM Phenotype]
- autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 [DO Concept]
OMIM relation
- Dna replication helicase/nuclease 2 [OMIM gene]
See also inter- (CISMeF)
- Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- DNA Replication Pathway [NCIt concept]
gene_plays_role_in_process
- ATP Hydrolysis [NCIt concept]
- DNA Binding [NCIt concept]
- DNA Repair [NCIt concept]
- DNA Replication [NCIt concept]
- Hydrolysis [NCIt concept]

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