CFAP251 wt Allele

Preferred Label : CFAP251 wt Allele;

NCIt synonyms : WD Repeat Domain 66 Gene; MGC33630; WDR66; CaM-IP4; SPGF33; Cilia and Flagella Associated Protein 251 wt Allele;

NCIt definition : Human CFAP251 wild-type allele is located in the vicinity of 12q24.31 and is approximately 86 kb in length. This allele, which encodes cilia- and flagella-associated protein 251, is involved in cilia assembly and sperm motility. Mutation of the gene is associated with spermatogenic failure 33 and polymorphisms in the gene have been associated with variance in mean platelet volume.;

GenBank Accession Number : AL833930;

Details

Origin ID

C113274;

UMLS CUI

C3814038;

Automatic exact mappings (from CISMeF team)
- Cilia- and flagella-associated protein 251 [OMIM gene]
- Spermatogenic failure 33 [OMIM Phenotype]
- cilia and flagella associated protein 251 [ORDO Gene]
- spermatogenic failure 33 [DO Concept]
OMIM relation
- Cilia- and flagella-associated protein 251 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 12q24.31 [NCIt concept]
gene_plays_role_in_process
- Calcium Binding [NCIt concept]
- Cell Motility [NCIt concept]
- Cell Movement Process [NCIt concept]
- Cytoskeletal Process [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Regulation of Cell Shape [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients