RECQL4 wt Allele

Preferred Label : RECQL4 wt Allele;

NCIt synonyms : RTS; RECQ4; RecQ Helicase-Like 4 Gene; RecQ Like Helicase 4 wt Allele; DNA Helicase, RECQ-Like, Type 4 Gene; RecQ Protein-Like 4 Gene;

NCIt definition : Human RECQL4 wild-type allele is located in the vicinity of 8q24.3 and is approximately 6 kb in length. This allele, which encodes ATP-dependent DNA helicase Q4 protein, is involved in the initiation of DNA replication, cohesion of sister chromatids and maintenance of genomic stability. Certain allelic variants of the RECQL4 gene cause Rothmund-Thomson syndrome and RAPADILINO syndrome.;

GenBank Accession Number : NM_004260;

Details

Origin ID

C49409;

UMLS CUI

C1706173;

False automatic mappings
- Rothmund-Thomson syndrome [ORDO Disease]
OMIM relation
- Recq protein-like 4 [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
- 8q24.3 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Rothmund-Thomson Syndrome Type 2 [NCIt concept]
gene_plays_role_in_process
- ATP Hydrolysis [NCIt concept]
- DNA Topology Regulation [NCIt concept]
- Hydrolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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