CHD7 wt Allele

Preferred Label : CHD7 wt Allele;

NCIt synonyms : KIAA1416; IS3; Chromodomain Helicase DNA Binding Protein 7 wt Allele; FLJ20361; FLJ20357;

NCIt definition : Human CHD7 wild-type allele is located in the vicinity of 8q12.2 and is approximately 188 kb in length. This allele, which encodes chromodomain-helicase-DNA-binding protein 7, may be involved in both transcriptional regulation and chromatin modification. Mutation of the gene is associated with CHARGE syndrome.;

NCIt note : Variants of the CHD7 gene are associated with idiopathic scoliosis type 3. (UniProt);

GenBank Accession Number : AB037837;

Details

Origin ID

C75310;

UMLS CUI

C2698725;

OMIM relation
- Chromodomain helicase dna-binding protein 7 [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_plays_role_in_process
- ATP Hydrolysis [NCIt concept]
- Chromatin Remodeling [NCIt concept]
- DNA Binding [NCIt concept]
- DNA Topology Regulation [NCIt concept]
- Hydrolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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