CEP152 wt Allele

Preferred Label : CEP152 wt Allele;

NCIt synonyms : Asterless Gene; Microcephaly, Primary Autosomal Recessive 9 Gene; Centrosomal Protein, 125-kD Gene; Centrosomal Protein 152kDa Gene; SCKL5; MCPH4; KIAA0912; Centrosomal Protein 152 wt Allele; MCPH9;

NCIt definition : Human CEP152 wild-type allele is located in the vicinity of 15q21.1 and is approximately 98 kb in length. This allele, which encodes centrosomal protein of 152 kDa, is involved in the regulation of serine/threonine-protein kinase PLK4-localization and cilium biogenesis and degradation. Mutations in the gene are associated with Seckel syndrome 5 and autosomal recessive primary microcephaly 9.;

GenBank Accession Number : AB020719;

Détails

Origin ID

C215433;

OMIM relation
- Centrosomal protein, 152-kd [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 15q21.1 [NCIt concept]
gene_plays_role_in_process
- Cell Movement Process [NCIt concept]
- Cytoskeletal Process [NCIt concept]
- Microtubule Process [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Receptor Signaling [NCIt concept]
- Regulation of Cell Shape [NCIt concept]
- Signal Transduction [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]

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

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients