CEP89 wt Allele

Preferred Label : CEP89 wt Allele;

NCIt synonyms : CCDC123; Coiled-Coil Domain-Containing Protein 123, Mitochondrial Gene; Centrosomal Protein, 89-kD Gene; Centrosomal Protein 89kDa wt Allele; CEP123; FLJ14640;

NCIt definition : Human CEP89 wild-type allele is located in the vicinity of 19q13.11 and is approximately 93 kb in length. This allele, which encodes centrosomal protein of 89 kDa, plays a role in the modulation of ciliogenesis.;

NCIt note : A fusion involving the CEP89 gene and the BRAF gene may be associated with Spitz-like nevi. (COSMIC);

GenBank Accession Number : AL832158;

Details

Origin ID

C122888;

UMLS CUI

C4049606;

Automatic exact mappings (from CISMeF team)
- Centrosomal protein, 89-kd [OMIM gene]
OMIM relation
- Centrosomal protein, 89-kd [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_plays_role_in_process
- Cell Surface Extension [NCIt concept]

Keyword's position in hierarchy(ies) :

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