CCDC40 wt Allele

Preferred Label : CCDC40 wt Allele;

NCIt synonyms : FLJ32021; FLJ20753; FAP172; CFAP172; KIAA1640; CILD15; Coiled-Coil Domain Containing 40 wt Allele;

NCIt definition : Human CCDC40 wild-type allele is located in the vicinity of 17q25.3 and is approximately 64 kb in length. This allele, which encodes coiled-coil domain-containing protein 40, plays a role in dynein-regulated motility in cilia and flagella. Mutation of the gene is associated with primary ciliary dyskinesia type 15.;

NCI Metathesaurus CUI : CL1914081;

GenBank Accession Number : AB046860;

Details

Origin ID

C198528;

UMLS CUI

C5781214;

OMIM relation
- Coiled-coil domain-containing protein 40 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17q25.3 [NCIt concept]
gene_plays_role_in_process
- Cell Motility [NCIt concept]
- Microtubule Process [NCIt concept]
- Protein-Protein Interaction [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients