CHD6 wt Allele

Preferred Label : CHD6 wt Allele;

NCIt synonyms : FLJ22369; RIGB; CHD5; Radiation-Induced Gene B; Chromodomain Helicase DNA Binding Protein 6 wt Allele; dJ620E11.1; KIAA1335; CHD-6; Chromodomain Helicase DNA-Binding Protein 6 Gene;

NCIt definition : Human CHD6 wild-type allele is located in the vicinity of 20q12 and is approximately 216 kb in length. This allele, which encodes chromodomain-helicase-DNA-binding protein 6, plays a role in chromatin remodeling.;

NCIt note : A mutation in the CHD6 gene may be associated with Hallermann-Streiff syndrome (HSS). (Nature Commun. 2021. 12:https://doi.org/10.1038/s41467-021-23327-1.);

NCI Metathesaurus CUI : CL1662782;

GenBank Accession Number : AF525085;

Details

Origin ID

C180389;

UMLS CUI

C5551125;

Automatic exact mappings (from CISMeF team)
- Chromodomain helicase dna-binding protein 5 [OMIM gene]
- Chromodomain helicase dna-binding protein 6 [OMIM gene]
- Guided entry of tail-anchored proteins factor 1 [OMIM gene]
OMIM relation
- Chromodomain helicase dna-binding protein 6 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 20q12 [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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