HDAC8 wt Allele

Preferred Label : HDAC8 wt Allele;

NCIt synonyms : RPD3; CDLS5; Histone Deacetylase-Like 1 Gene; WTS; MRXS6; HD8; HDACL1; CDA07; Histone Deacetylase 8 wt Allele;

NCIt definition : Human HDAC8 wild-type allele is located in the vicinity of Xq13 and is approximately 244 kb in length. This allele, which encodes histone deacetylase 8 protein, plays a role in post-translational modification of histones. Mutation of the gene is associated with both Wilson-Turner X-linked mental retardation syndrome and Cornelia de Lange syndrome 5.;

GenBank Accession Number : AF230097;

Details

Origin ID

C113606;

UMLS CUI

C3810557;

Automatic exact mappings (from CISMeF team)
- Intellectual developmental disorder, X-linked, syndromic, wilson-turner type [OMIM Phenotype]
- Wilson-Turner syndrome [DO Concept]
- Wilson-Turner syndrome [ORDO Disease]
- histone deacetylase 8 [ORDO Gene]
- warts [MeSH Descriptor]
OMIM relation
- Histone deacetylase 8 [OMIM gene]
See also inter- (CISMeF)
- Cornelia de lange syndrome 5 [OMIM Phenotype]
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
- Xq13 [NCIt concept]
gene_plays_role_in_process
- Cell Cycle Progression [NCIt concept]
- Chromatin Remodeling [NCIt concept]
- Developmental Process [NCIt concept]
- Hydrolysis [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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