PARN wt Allele

Preferred Label : PARN wt Allele;

NCIt synonyms : Deadenylation Nuclease Gene; DKCB6; DAN; Poly(A)-Specific Ribonuclease (Deadenylation Nuclease) Gene; PFBMFT4; Poly(A)-Specific Ribonuclease wt Allele;

NCIt definition : Human PARN wild-type allele is located in the vicinity of 16p13.12 and is approximately 197 kb in length. This allele, which encodes poly(A)-specific ribonuclease PARN protein, plays a role in the positive regulation of mRNA decay and telomere synthesis. Mutation of the gene is associated with telomere-related pulmonary fibrosis and/or bone marrow failure type 4 and autosomal recessive dyskeratosis congenita type 6.;

NCI Metathesaurus CUI : CL553310;

GenBank Accession Number : AJ005698;

Détails

Origin ID

C152102;

UMLS CUI

C4724056;

Automatic exact mappings (from CISMeF team)
- Dyskeratosis congenita, autosomal recessive 6 [OMIM Phenotype]
- Neuroblastoma candidate region, suppression of tumorigenicity 1 [OMIM gene]
- Polyadenylate-specific ribonuclease [OMIM gene]
- Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 4 [OMIM Phenotype]
- autosomal recessive dyskeratosis congenita 6 [DO Concept]
- poly(A)-specific ribonuclease [ORDO Gene]
- prenatal diagnosis [MeSH Descriptor]
OMIM relation
- Polyadenylate-specific ribonuclease [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
- 16p13.12 [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
- RNA Degradation Pathway [NCIt concept]
gene_plays_role_in_process
- Hydrolysis [NCIt concept]
- RNA Binding [NCIt concept]
- RNA Degradation [NCIt concept]
- RNA Processing [NCIt concept]
- Telomere Maintenance [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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