CHD8 wt Allele

Preferred Label : CHD8 wt Allele;

NCIt synonyms : Axis Duplication Inhibitor Gene; HELSNF1; DKFZp686N17164; Chromodomain Helicase DNA Binding Protein 8 wt Allele; DUPLIN; KIAA1564;

NCIt definition : Human CHD8 wild-type allele is located in the vicinity of 14q11.2 and is approximately 71 kb in length. This allele, which encodes chromodomain-helicase-DNA-binding protein 8, is involved in both transcriptional regulation and chromatin modification.;

NCIt note : Mutation of the CHD8 gene may be associated with autism. (Nature. 2012; 485:237-241 and Nature. 2012; 485:246-250.);

GenBank Accession Number : AB046784;

Details

Origin ID

C102441;

UMLS CUI

C3540049;

OMIM relation
- Chromodomain helicase dna-binding protein 8 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 14q11.2 [NCIt concept]
gene_is_element_in_pathway
- Wnt Signaling Pathway KEGG [NCIt concept]
gene_plays_role_in_process
- ATP Hydrolysis [NCIt concept]
- Chromatin Remodeling [NCIt concept]
- DNA Binding [NCIt concept]
- Hydrolysis [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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