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 135) is a Protein Coding gene. Diseases associated with CEP135 include Microcephaly 8, Primary, Autosomal Recessive and Autosomal Recessive Primary Microcephaly. Among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. GO annotations related to this gene include microtubule binding and 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.