DKC1 wt Allele

Preferred Label : DKC1 wt Allele;

NCIt synonyms : CBF5; DKC; DKCX; NOLA4; NAP57; Dyskerin Pseudouridine Synthase 1 wt Allele; XAP101; Dyskeratosis Congenita 1, Dyskerin Gene;

NCIt definition : Human DKC1 wild-type allele is located in the vicinity of Xq28 and is approximately 15 kb in length. This allele, which encodes H/ACA ribonucleoprotein complex subunit 4 protein, plays a role in the stabilization and maintenance of telomerase and H/ACA small nucleolar RNA ribonucleoprotein biogenesis. Mutation of the gene is associated with both Hoyeraal-Hreidarsson syndrome and X-linked dyskeratosis congenita.;

GenBank Accession Number : AJ224481;

Details

Origin ID

C113620;

UMLS CUI

C3811202;

Automatic exact mappings (from CISMeF team)
- Dyskeratosis congenita [ORDO Disease]
- Dyskeratosis congenita, X-linked [OMIM Phenotype]
- Dyskerin [OMIM gene]
- NAP57 [MeSH Supplementary Concept]
- NAP57 [MeSH concept]
- X-linked dyskeratosis congenita [DO Concept]
- choledochal cyst [MeSH Descriptor]
- dyskeratosis congenita [MeSH Descriptor]
- dyskerin pseudouridine synthase 1 [ORDO Gene]
OMIM relation
- Dyskerin [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
- Xq28 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Hematologic Neoplasm with Germline Predisposition Associated with Telomerase Biology Disorder [NCIt concept]
gene_is_element_in_pathway
- Telomerase Regulation Pathway [NCIt concept]
gene_plays_role_in_process
- RNA Binding [NCIt concept]
- RNA Processing [NCIt concept]
- Telomere Maintenance [NCIt concept]

Keyword's position in hierarchy(ies) :

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