POLR3B wt Allele

Preferred Label : POLR3B wt Allele;

NCIt synonyms : RPC2; RNA Polymerase III Subunit B wt Allele; FLJ10388; C128; INMAP; Polymerase (RNA) III (DNA Directed) Polypeptide B Gene; HLD8; Polymerase III, RNA, Subunit B Gene; C128, S. cerevisiae, Homolog of Gene;

NCIt definition : Human POLR3B wild-type allele is located in the vicinity of 12q23.3 and is approximately 153 kb in length. This allele, which encodes DNA-directed RNA polymerase III subunit RPC2 protein, plays a role in the synthesis of ribosomal and transfer RNAs. Mutation of the gene is associated with hypomyelinating leukodystrophy-8.;

NCI Metathesaurus CUI : CL514401;

GenBank Accession Number : AY092084;

Details

Origin ID

C131590;

UMLS CUI

C4321308;

Automatic exact mappings (from CISMeF team)
- Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism [OMIM Phenotype]
- Polymerase III, rna, subunit b [OMIM gene]
- RNA polymerase III subunit B [ORDO Gene]
OMIM relation
- Polymerase III, rna, subunit b [OMIM gene]
See also inter- (CISMeF)
- hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism [DO Concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Cytosolic DNA-Sensing Pathway [NCIt concept]
- Purine Metabolism Pathway [NCIt concept]
- Pyrimidine Metabolism Pathway [NCIt concept]
- RNA Polymerase Assembly Pathway [NCIt concept]
gene_plays_role_in_process
- Immunity [NCIt concept]
- Polymerization [NCIt concept]
- Transcription Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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