SSBP1 wt Allele

Preferred Label : SSBP1 wt Allele;

NCIt synonyms : SSBP; SOSS Complex Subunit B1 Gene; Single-Stranded DNA Binding Protein 1, Mitochondrial Gene; Single-Stranded DNA Binding Protein 1 wt Allele; mtSSB; Mt-SSB; SOSS-B1; OPA13; Sensor of Single-Stranded DNA Complex, Subunit B1 Gene;

NCIt definition : Human SSBP1 wild-type allele is located in the vicinity of 7q34 and is approximately 50 kb in length. This allele, which encodes single-stranded DNA-binding protein, mitochondrial, is involved in binding to pyrimidine rich single-stranded DNA. Mutation of the gene is associated with optic atrophy 13 with retinal and foveal abnormalities.;

NCI Metathesaurus CUI : CL1663374;

GenBank Accession Number : M94556;

Details

Origin ID

C180757;

UMLS CUI

C5551150;

Automatic exact mappings (from CISMeF team)
- Optic atrophy 13 with retinal and foveal abnormalities [OMIM Phenotype]
- Single-stranded dna-binding protein 1 [OMIM gene]
- single stranded DNA binding protein 1 [ORDO Gene]
OMIM relation
- Single-stranded dna-binding protein 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 7q34 [NCIt concept]
gene_is_element_in_pathway
- DNA Replication Pathway [NCIt concept]
- Homologous Recombination Pathway [NCIt concept]
- Mismatch Repair Pathway [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- DNA Maintenance [NCIt concept]
- DNA Replication [NCIt concept]
- RNA Binding [NCIt concept]

Keyword's position in hierarchy(ies) :

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