Aliases for CEP135 Gene
External Ids for CEP135 Gene
Previous HGNC Symbols for CEP135 Gene
Previous GeneCards Identifiers for CEP135 Gene
This gene encodes a centrosomal protein, which acts as a scaffolding protein during early centriole biogenesis, and is also required for centriole-centriole cohesion during interphase. Mutations in this gene are associated with autosomal recessive primary microcephaly-8. [provided by RefSeq, Jun 2012]
GeneCards Summary for CEP135 Gene
CEP135 (Centrosomal Protein 135kDa) is a Protein Coding gene. Diseases associated with CEP135 include microcephaly 8, primary, autosomal recessive and primary autosomal recessive microcephalies and seckel syndrome spectrum disorders. Among its related pathways are Cell Cycle, Mitotic and Cell Cycle, Mitotic. GO annotations related to this gene include protein C-terminus binding. An important paralog of this gene is TSGA10.
UniProtKB/Swiss-Prot for CEP135 Gene
Centrosomal protein involved in centriole biogenesis. Acts as a scaffolding protein during early centriole biogenesis. Also required for centriole-centriole cohesion during interphase by acting as a platform protein for CEP250 at the centriole.