Aliases for CEP152 Gene
External Ids for CEP152 Gene
Previous HGNC Symbols for CEP152 Gene
Previous GeneCards Identifiers for CEP152 Gene
This gene encodes a protein that is thought to be involved with centrosome function. Mutations in this gene have been associated with primary microcephaly (MCPH4). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]
GeneCards Summary for CEP152 Gene
CEP152 (Centrosomal Protein 152kDa) is a Protein Coding gene. Diseases associated with CEP152 include microcephaly 9, primary, autosomal recessive and seckel syndrome 5. Among its related pathways are Cell Cycle, Mitotic and Cell Cycle, Mitotic. GO annotations related to this gene include protein kinase binding.
UniProtKB/Swiss-Prot for CEP152 Gene
Necessary for centrosome duplication. Acts as a molecular scaffold facilitating the interaction of PLK4 and CENPJ, 2 molecules involved in centriole formation. Also plays a key role in deuterosome-mediated centriole amplification in multiciliated that can generate more than 100 centrioles. Overexpression of CEP152 can drive amplification of centrioles.